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Aetiology of severe visual impairment and blindness in microphthalmos

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Aetiology of severe visual impairment and blindness in microphthalmos

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Microphthalmos occupies a spectrum from a normal, but small globe, to a globe with multiple anterior and posterior segment abnormalities. This study examines 54 eyes of 27 patients who had bilateral microphthalmos and severe visual impairment or blindness. Congenital cataract was the commonest cause of severe visual impairment (44%), followed by presumed retinal or optic nerve dysplasia (30%) and chorioretinal coloboma (22%). Lensectomy was followed by phthisis bulbi in 3/23 cases and retinal detachment in 2/23 cases. There were no cases of angle closure glaucoma. The three clinical conditions associated with a poor prognosis were cataract, chorioretinal coloboma, and a markedly reduced corneal diameter. A corneal diameter of 6 mm or less was associated with a visual acuity of no perception of light in 81% (21/26) compared with 4% (1/28) of those with larger corneas.
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... Microphthalmos is a developmental ocular disorder characterized by an eye with axial length (AL) at least 2 SD below the mean for that age group [1]. The earliest classification of microphthalmos was by Duke Elder who classified microphthalmos into simple and pure types and complex and complicated types [2]. ...
... The anterior segment was examined with a slit-lamp biomicroscope, and the fundus was examined by ophthalmoscopy. An eye was considered to have PM when its AL was ≤ 2 standard deviations that of the eyes of healthy age-matched individuals (Nitta et al.), [12] and the anterior segment of the eyes was normal [1,2]. The data of Nitta et al. [12] were used as reference for normal values of the AL in children. ...
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Purpose To determine the area of the surface foveal avascular zone (FAZ) in children with posterior microphthalmos (PM), high hyperopia, and normal eyes using optical coherence tomography (OCT) and OCT angiography (OCTA). Methods Thirty-six children were studied including 6 cases 12 eyes of PM (mean age 9.5 ± 5.2 years), 15 cases 30 eyes of high hyperopia (6.9 ± 1.5 years), and 15 cases 30 eyes of healthy individuals (8.7 ± 1.7 years). The B- and C-scan images in all children were recorded by OCT and OCTA with a scanning area of 3.0 × 3.0 mm centered on the fovea. All images were corrected for axial length differences, and the area of the FAZ surface and central macular thickness (CMT) was measured manually and compared. Results The area of FAZ in the PM group was 0.007 ± 0.003 mm², which was significantly smaller than that in the high hyperopia eyes at 0.286 ± 0.108 mm² and healthy eyes at 0.318 ± 0.129 mm² (both P < 0.001). The CMT in the PM group was 401.58 ± 33.60 mm, which was significantly thicker than in the high hyperopia eyes at 202.93 ± 12.28 mm and the normal eyes at 204.43 ± 18.76 mm. The area of the FAZ and CMT in the hyperopia group did not differ significantly from that of the normal healthy eyes. Conclusion These findings indicate that patients with PM have a hypoplastic macular region, which must be considered in any treatment of these eyes.
... Microphthalmos is a disorder where the total axial length of an eye is smaller than 2 standard deviations of the normal length for that age group (1) . It is a rare ...
... Arq Bras Oftalmol. 2022 -Ahead of Print congenital spectrum of diseases, including simple microphthalmos without any other ocular malformations and complex microphthalmos, which is associated with multiple associated ocular and/or systemic abnormalities (1) . Posterior microphthalmos (PM) is a rare subgroup of microphthalmos that is usually unrecognized owing to the unremarkable anterior segment of the eye with normal dimensions; however, the posterior segment is disproportionately smaller than normal, which leads to short axial length and high hyperopia (2,3) . ...
Article
Purpose: To evaluate the efficacy of soft HydroCone silicone hydrogel contact lenses in patients with posterior microphthalmos. Methods: The charts of 13 patients with posterior microphthalmos (26 eyes) who were fitted with soft HydroCone silicone hydrogel contact lenses were reviewed retrospectively. All the patients underwent assessments of uncorrected and best spectacle-corrected visual acuity and cycloplegic refraction. They were fitted with contact lenses according to the parameter values obtained from the topographical analysis and best contact lens-corrected visual acuity measurement. Results: The spherical equivalents of the right and left eyes ranged from 10.00 to 19.25 diopters and from 11.00 to 21.5 diopters, respectively. The mean axial and posterior chamber lengths were shorter than those of the age-matched population. However, the mean values of the anterior segment parameters such as horizontal visible iris diameter, central anterior chamber depth, lens thickness, and central corneal thickness were in the normal range. The mean keratometric measurements revealed increased corneal curvature compared with that in the normal population. The mean best contact lens-corrected visual acuity was significantly higher than the mean best spectacle-corrected visual acuity for both eyes (p=0.045). Conclusion: HydroCone silicon soft contact lenses provided better visual acuity than spectacles in the patients with posterior microphthalmos in this study.
... La microphtalmie est une malformation congénitale rare de prévalence inconnue mais < 01/2000 [1], due à une anomalie du développement de l'oeil du fait de l'arrêt de la croissance des tissus oculaires. Elle se défini par un oeil ayant une longueur axiale totale inférieure à deux écarts-types par rapport à la normale pour le même groupe d'âge [2]. ...
... Ces malformations entrent le plus souvent dans un contexte de retard mental ou de déformations crâniennes. Un type rare de microphtalmie qui affecte de manière disproportionnée le segment oculaire postérieur avec aspect extérieur normal des yeux a été identifié sous le terme de «microphtalmie postérieure» [4][5][6] qui se caractérise par une forte hypermétropie, une longueur axiale réduite, un segment postérieur dont la taille est réduite, et un segment antérieur dont les dimensions sont normales ou subnormales [2]. ...
Article
La microphtalmie postérieure avec pli papillomaculaire est une anomalie rare. Elle affecte les deux yeux et ne s'accompagne habituellement pas d'autres anomalies oculaires ou générales. Elle se caractérise par un segment postérieur court avec un segment antérieur normal. Nous rapportons le cas d'une fille âgée de 10 ans qui consulte pour une baisse d'acuité visuelle progressive bilatérale, l'examen ophtalmologique des deux yeux retrouve une forte hypermétropie avec une meilleure acuité visuelle corrigée chiffrée à 08/10ème à droite et à 07/10eme à gauche, les segments antérieurs sont normaux, par contre au fond d'œil nous notons un aspect d'une papille pleine non excavée, un pli papillo-maculaire bilatéral, et une périphérie normale. L'échographie oculaire en mode A et B confirme la microphtalmie postérieure. La tomographie en cohérence optique (OCT) montre un aspect d'un pli rétinien de siège papillomaculaire qui intéresse les couches internes de la rétine avec respect des couches externes de la rétine et la choroïde. L'objectif de ce travail est d'analyser les caractéristiques cliniques du segment postérieur de l’œil au cours de la microphtalmie postérieure à travers cette observation et une revue de littérature
... Posterior microphthalmos (PM) is a rare developmental disorder characterised by high hyperopia, short axial length, presence of retinal papillomacular fold (RPMF) and relatively normal anterior segment findings. [1][2][3] Other rare ocular associations with PM include uveal effusion, crowded optic discs, macular hole, pigmentary retinopathy, foveoschisis, retinoschisis and retinal detachment. [3][4][5][6][7] One of the most characteristic findings noted with PM is presence of RPMF. ...
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Clinical relevance: Posterior microphthalmos (PM) is a rare developmental disorder characterised by high hyperopia, short axial length, presence of retinal papillomacular fold and relatively normal anterior segment findings. Background: The purpose of the study was to compare the retinal arcade distance from fovea between PM cases and to correlate axial shortening in PM eyes with imaging findings. Methods: This retrospective, comparative case series included 24 eyes of 12 patients with PM as cases and an equal number of age- and sex-matched controls. Retinal findings on optical coherence tomography (OCT), OCT-angiography, Multicolour® image, axial length and corneal biometry were computed, compared and correlated between two groups. Results: Retinal papillomacular fold was noted in all 24 PM eyes. Retinal arcade narrowing was noted in PM (p < 0.001). The central retina (p < 0.001) and choroid (p = 0.003) was thick in PM. Corneal biometry showed shorter axial length (p < 0.001), high keratometry readings (p < 0.001) and small corneal diameters (p = 0.011) in PM. Vessel density (p = 0.031) on OCTA was denser and foveal avascular zone area (p = 0.033) reduced in PM. Strong negative correlation of axial length with spherical equivalent (r = > -0.804;p < 0.001), vessel density (r = > -0.803; p = <0.001) and K1 (r = > -0.76; p < 0.001) and K2 (r = > -0.67; p = 0.001) keratometry readings was noted in PM. Significant positive correlation was noted between axial length and anterior chamber depth (r = 0.75; p < 0.001), foveal avascular zone area (r = 0.56; p = 0.033) and corneal diameter (r = 0.65; p = 0.001). Vessel density on OCT-angiography correlated positively with central corneal thickness (r = 0.552;p = 0.005) and corneal powers K1 (r = 0.709; p = 0.001) and K2 (r = 0.56; p = 0.004) and negatively with corneal diameter (r = > -0.521; p = 0.033). Conclusion: Increased choroidal thickening and retinal vascular arcade narrowing were two important, interesting observations noted with PM. Intercorrelation between the axial length, OCT, OCT-angiography and corneal biometry helped in understanding the pathogenesis and the structural and vascular changes in PM eyes.
... Microphthalmos is a developmental ocular disorder [1], characterized by eyeballs with ocular axial length (AL) at least two standard deviations smaller than the average in normal eyes, namely, AL <21 mm [2]. ere are few epidemiological data on microphthalmos. ...
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Nanophthalmos is a clinical phenotype of simple microphthalmos, in which the anterior and posterior segments of the eyeball do not develop into a normal size without other major ocular or systemic anomalies. Typical clinical manifestations of nanophthalmos include short axial length, thickened sclera, small cornea, shallow anterior chamber, and increased lens-to-eye volume ratio. Currently, there is a lack of recognized diagnostic criteria for nanophthalmos. With the development of eye examination technologies, such as biological measurement and imaging examination, visualization and quantification of the eyeball’s shape and structure in nanophthalmos can be realized. New clinical features have been reported, which are of great significance for diagnosing and treating nanophthalmos. This review introduces the related concepts of nanophthalmos and the new developments in its clinical characterization. 1. Introduction Microphthalmos is a developmental ocular disorder [1], characterized by eyeballs with ocular axial length (AL) at least two standard deviations smaller than the average in normal eyes, namely, AL <21 mm [2]. There are few epidemiological data on microphthalmos. Those available found its prevalence to be 0.002–0.017% in the United Kingdom and 0.0009% in China [3]. Microphthalmos has many clinical phenotypes (Figure 1), which can occur isolated or in combination with other ocular malformations, and might occur secondary to a systemic syndrome. Microphthalmos is divided into simple and complex types. The former only manifests as a decrease in eyeball volume, without other obvious eye deformities, while the latter occurs alongside other apparent ocular malformations, including chorioretinal coloboma, iris coloboma, and retinal dysplasia [4, 5].
... Ocular coloboma results due to the maldevelopment of embryo, and eyes with congenital coloboma are at highest risk for surgical complications during cataract surgery. [1][2][3][4] In normal ocular development, closure of the embryonic fissure, a transient groove in the neuroectodermal cup, begins at the equator and proceeds anteriorly and posteriorly. 5 Typically, coloboma involves the inferonasal quadrant, caused by the defective closure of embryonic fissure. ...
Article
Purpose: To evaluate outcomes of manual small-incision cataract surgery (MSICS) and phacoemulsification in eyes with chorioretinal coloboma. Setting: Tertiary eye center, South India. Design: Retrospective study. Methods: Electronic medical records of 71 patients with chorioretinal coloboma undergoing cataract surgery from January 2017 to December 2019 were evaluated. Demographics, corrected distance visual acuity (CDVA), slitlamp biomicroscopy findings, grade of cataract, type of coloboma and associated posterior segment pathology, outcomes of different surgical techniques and risk factors for poor visual outcomes, and intraoperative complications were analyzed. Results: Among the 78 eyes studied, 53.9% eyes achieved visual outcome of 20/40 or greater and 20.5% eyes achieved CDVA less than 20/200. For the MSICS group, the median preoperative CDVA was 1.78 (interquartile range [IQR] 1.08 to 2.60) logMAR), which improved to 0.60 (IQR 0.30-1.08) logMAR postoperatively. In phacoemulsification group, the CDVA improved from 0.78 (IQR 0.60-1.00) logMAR to 0.18 (IQR 0.18-0.30) logMAR. Statistically significant visual improvement was noticed in both groups (P < .001 in both). However, eyes that underwent phacoemulsification showed better visual recovery (P < .001). The mean age at presentation was 49.7 ± 10.8 years. MSICS was the most commonly performed surgery (61.54%), and 62 eyes had uneventful cataract surgery. Twelve eyes in MSICS group and 4 eyes in phacoemulsification group had intraoperative complications. Poor visual outcome was associated with male sex, microcornea, hard cataracts, and macular involvement of coloboma. Conclusions: MSICS is an alternative to phacoemulsification in colobomatous eyes with advanced cataract. Hard cataract and microcornea were risk factors for intraoperative complications. Significant postoperative improvement in CDVA was noticed in both macula involved and macula not involved groups.
... [7][8][9][10][11] Microphthalmos is defined as an eye with an axial length more than 2 standard deviations below the mean for the age adjusted population. [12,13] The axial length is 16.8 mm at birth and 20 mm at 1 year of age, but with individual differences. [14] In this study, we selected infants under 1 year of age with congenital cataract whose axial length was <18 mm, observed their ocular axis growth between first-stage cataract surgery and second-stage IOL implantation, and compared with eyes with preoperative axial length of ≥18 mm. ...
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To observe the ocular axis, visual acuity and intraocular pressure (IOP) of aphakic eye in infants with congenital cataract and complex microphthalmos after first-stage cataract surgery.This retrospective study included infants with congenital cataract and operated at the Qingdao Eye Hospital between January 2010 and December 2014. The infants were divided into 2 groups: preoperative axial length <18 mm (microphthalmos) or ≥18 mm (controls). Follow-up lasted 24 months; visual acuity, axial length, and IOP were evaluated.There were 28 infants (55 eyes) in the microphthalmos group and 35 (61 eyes) in the control group. The preoperative visual acuity was negative for optokinetic nystagmus, while the postoperative visual acuity was positive for optokinetic nystagmus in both groups. The growth rate was higher in the microphthalmos group (1.4 ± 0.8 vs 0.8 ± 0.4 mm/yr, P < .001 vs controls). The axial length was smaller in the microphthalmos group at all time points compared with the control group (all P < .001). There was no changes in IOP in the microphthalmos group from baseline to 24 months (P = .147), but the IOP was slightly decreased in the control group (P = .015).Cataract surgery may contribute to ocular axis growth in infants with complex microphthalmos.
... Microphthalmos is a developmental ocular disorder defined by an axial length that is at least two standard deviations below the mean within a specific age group. 1,2 Posterior microphthalmos (PM), a subset of microphthalmos, is characterized by a disproportionately small posterior segment with normal anterior segment dimensions. [2][3][4] Because of foreshortening, PM leads to a relative crowding effect of the posterior segment. ...
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Purpose: We report a case of posterior microphthalmos with characteristic papillomacular retinal folds, pigmentary retinopathy, and optic disc drusen. Observations: A 19-year-old female presented with decreased visual acuity and was found to have bilateral posterior microphthalmos with the presence of papillomacular retinal folds, crowded optic nerves with buried disc drusen, and peripheral retinal pigmentary changes. Optical coherence tomography showed presence of retinal folds involving the inner retinal layers and loss of foveal contour. Conclusions and importance: Posterior microphthalmos can present with an array of unique clinical findings involving the posterior segment. It is important to recognize these findings as these patients often have decreased visual acuity and are at risk for the development of other posterior complications.
... Other associated ocular abnormalities include microphthalmos or nanophthalmos (axial length less than 21.0 mm or 20.0 mm respectively) [8], nystagmus, optic atrophy, and retinal detachment. Cataract surgery in eyes with coloboma is more challenging due to higher rates of intraoperative complications secondary to zonular deficiency, poor dilation, and microphthalmos [6,9]. There is also an increased risk of postoperative retinal detachment [10] and coloboma-related maculopathy [10]. ...
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Purpose: To assess the safety, efficacy, and complication rate of phacoemulsification and intraocular lens (IOL) implantation in patients with congenital uveal coloboma and to evaluate the role of pupilloplasty. Methods: A retrospective review of 41 eyes (31 patients) with congenital coloboma that underwent phacoemulsification and IOL implantation between September 2012 and September 2018. Preoperative, intraoperative, and postoperative data were collected for analysis. Results: The mean patient age at surgery was 53.9 years (range 15-82). The primary indication for surgery was cataract removal for visual improvement, and lens subluxation was additionally present in two eyes (5%) preoperatively. The mean preoperative corrected distance visual acuity (CDVA) was 0.90 LogMAR. Phacoemulsification surgery was performed in all cases and nine eyes (22%) had pupilloplasty for pupil reconstitution at the time of the procedure. Surgeon grade varied from trainee surgeon under supervision to consultant. Eight patients (19.5%) had posterior capsular rupture (PCR) with or without vitreous loss requiring anterior vitrectomy. Of these, 2 cases (5%) had dropped nuclear fragments requiring subsequent pars plana vitrectomy and lens fragment removal. The mean postoperative CDVA was 0.62 LogMAR (p = 0.0003). Conclusion: Patients with iridolenticular choroidal coloboma appear to be more at risk of complications, as were cases performed by non-consultant surgeons. Contrary, patients with phakodonesis, preoperative anterior chamber vitreous, dense cataracts, and cases were iris hooks used had no significant difference at PCR rate. The risk of postoperative glare and pupilloplasty needs to be considered in cases with good visual potential to avoid a possible second procedure.
Article
A 12-year-old girl presented with an unusually large mass under the right lower eyelid and a smaller mass under the left lower lid since the last 6 months. The parents had noticed the absence of the right eyeball and a very small left eyeball and no vision in both eyes since birth but did not approach the healthcare system. The patient was diagnosed as a case of bilateral severe microphthalmos with colobomatous cyst with late presentation and was treated surgically. The parents were counselled for education and training of the child in schools for visually impaired. Early treatment and rehabilitation help patients lead a normal life in these cases. In rural areas, patients face challenges in getting access to the specialty eye-care services due to several barriers, including lack of availability and affordability. This case highlights the disparities in essential health services in low and middle-income countries.
Article
• Simple microphthalmos was diagnosed in 22 patients on the basis of a normal-appearing eye and a total axial length at least 2 SDs below the mean for age. Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs below the mean in all patients, indicating that disproportionate reduction in posterior segment length accounted for the microphthalmos. The normal values for total axial length, anterior segment length, and posterior segment length were determined from the analysis of axial length measurements obtained from age-similar controls. Ten patients had isolated microphthalmos. One of them was diagnosed as having nanophthalmos on the basis of microcornea, total axial length less than 18 mm, and absence of systemic disease. Twelve patients had associated systemic disorders, such as fetal alcohol syndrome, myotonic dystrophy, and achondroplasia, which implicated decreased size of the optic cup, altered vitreous proteoglycans, low intraocular pressure, and abnormal release of growth factors in the pathogenesis of microphthalmos.
Article
• Forty patients were diagnosed as having complex microphthalmos on the basis of a malformed globe with a total axial length measurement at least 2 SDs below the mean for age-similar controls. Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and 3, complex malformations due to ipsilateral facial malformations. Measurements of total axial length indicated that complex microphthalmos was congenital and that postnatal growth of the malformed eye was similar to that of normal eyes. In most patients the anterior segment length was normal, while in all patients the posterior segment length was at least 2 SDs below the mean. Corneal diameter correlated significantly with total axial length (r2 =.57) and decreased linearly as total axial length decreased. In most patients in whom measurements were obtained, the lens and corneal power were increased, thereby compensating for decreased total axial length. We propose that inadequate production of secondary vitreous is the cause of the microphthalmos, given that the posterior segment was disproportionately reduced in size and the secondary vitreous is its predominant component. Evidence that each of the various ocular malformations can influence the production of secondary vitreous is presented.
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Congenital anomalies of the facial skeleton are intriguing. Of particular interest to the ophthalmologist is a specific variety of mandibulofacial dysostosis having the following peculiarities: l o c a l i z e d alopecia, beaked nose, microcornea, congenital cataract, and occasionally glaucoma. The cataracts are most unique in that spontaneous rupture and absorption frequently occur in this entity. Recently, Francois (1958) has summarized, under the title "A New Syndrome," the evidence for a syndrome previously reported by Ullrich and Fremerey-Dohna (1953). This syndrome was described by the latter authors to be a dyscephaly with congenital cataracts and hypotrichosis. It is characterized by the following: a scapho(brachy)cephaly with hypoplasia of the mandible, a beak-like nose, congenital cataracts, and hypotrichosis localisata. Other less striking or more variable findings are small stature, microstomia, and anti-mongoloid palpebral fissure, maxillary hypoplasia, an ogive palate, anomalies of the dentition, and sexual immaturity. Ullrich and Fremerey-Dohna
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This is a clinicopathologic study of 62 cases of persistent hyperplastic primary vitreous (PHPV). The cases were divided into two main groups. Group 1 consisted of 55 unilateral cases not associated with any systemic abnormalities, including 36 eyes (58%) which were considered "pure cases" (Group 1A) and 19 (31%) which disclosed other ocular abnormalities in addition to PHPV (Group 1B). Group 2 consisted of 7 (11%) bilateral cases of PHPV accompanied by other ocular and systemic malformations. The most common presenting clinical signs are leukocoria, microphthalmia and cataract. The main histopathologic features of this condition are outlined, including those responsible for the disastrous results to the eye (retinal detachment, glaucoma, phthisis bulbi). Several clinical entities, usually mistaken for or associated with PHPV, such as retinoblastoma, congenital cataract, retinal dysplasia, trisomy 13 syndrome, and falciform retinal folds are discussed briefly.
Article
Two patients had nanophthalmos with uveal effusion and angle-closure glaucoma. They were treated with a method based on the use of the laser, not only to perform iridotomy but to shrink the iris stroma, which appears to open the anterior chamber angle even without iridotomy. Additionally, we introduced three factors that may be diagnostic of nanophthalmos.
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The full childhood triad of enuresis, firesetting, and cruelty to animals is seldom reported by patients in acute care psychiatric facilities. Two of the three elements have been reported with greater frequency and constitute useful diagnostic information. Literature on the triad has been reviewed and data from three studies have been presented. The authors concluded that a history of two thirds of the triad is significantly associated with aggressive behaviours directed against people.
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This is a brief survey of more than 100 syndromes in which microphthalmos and/or coloboma appear. It is suggested that the disorders be assessed systematically by consecutive discussions of their aetiology, morphology and embryology.