Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.
ABSTRACT Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. Treatment involves intracellular cystine depletion with oral cysteamine. A wide spectrum of ocular pathologic features has been associated with nephropathic cystinosis. We used the largest documented cohort of patients in the world to study the posterior segment manifestations associated with infantile nephropathic cystinosis and to determine retrospectively the effect of chronic oral cysteamine therapy on the frequency of these abnormalities.
Cross-sectional study of a series of patients.
Two hundred eight patients with infantile nephropathic cystinosis were studied at the National Institutes of Health between 1976 and 2004.
All patients underwent an ophthalmic evaluation. Patients older than 11 years also underwent Humphrey static perimetry, and electrophysiological testing was performed when possible.
Visual acuity, retina findings, visual fields, and electroretinographic (ERG) findings.
Pigmentary changes with retinal pigment epithelial mottling, seen as early as infancy, were the most common posterior segment manifestations. Moderate to severe constriction of the visual fields, as well as moderate to severe reduction of rod- and cone-mediated ERG responses, was seen in older patients. The frequency of retinopathy correlated directly with time not receiving oral cysteamine therapy and inversely with time receiving oral cysteamine therapy.
Infantile nephropathic cystinosis has posterior segment complications that can contribute to significant visual handicap. Early initiation of oral cysteamine therapy can reduce the frequency of posterior segment complications in cystinosis patients.
- SourceAvailable from: Galina Nesterova[Show abstract] [Hide abstract]
ABSTRACT: Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder's systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.Pediatric Nephrology 08/2012; · 2.94 Impact Factor
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ABSTRACT: There are many disorders that can affect both the kidneys and the eyes. Awareness of the ocular manifestations of kidney disorders is important as it can guide the diagnosis and facilitate the choice of a specific treatment. Conversely, ophthalmologists need to be aware of potential renal manifestations in disorders presenting initially with visual failure. We review disorders affecting both of these organ systems, based upon cases from our clinical practice to highlight the importance of interdisciplinary collaboration.Pediatric Nephrology 01/2013; · 2.94 Impact Factor
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ABSTRACT: To report clinical features of bilateral angle-closure glaucoma in a patient with nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystrophy. This is probably the first published report of the possible association of all these five entities in the same patient. A 50-year-old white male was referred for uncontrolled glaucoma in both eyes. He was previously diagnosed with angle-closure glaucoma in association with ocular cystinosis. Ocular examination revealed high hyperopia (+13.5 OD and +14 OS diopters) with reduced axial length (16.27 mm OD and 15.93 mm OS). Despite being on 3 topical medications, his IOP measured 37 mmHg OD and 35 mm Hg OS. Slit-lamp biomicroscopy showed refractile, polychromatic crystalline deposits throughout the cornea and conjunctiva in both eyes. Gonioscopy revealed an extremely narrow angle with peripheral anterior synechiae (PAS). Anterior chamber depths were shallow. Fundus examination disclosed punctate hypopigmentation of the retinal pigment epithelium mainly at the posterior pole. Optical coherence tomography showed foveal schisis appearing as small retinal cysts. The patient did not display any systemic abnormalities. This case brings into discussion a new clinical entity of angle closure glaucoma in nanophthalmos accompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.BMC Ophthalmology 07/2012; 12:23. · 1.44 Impact Factor