Recurrent corneal epithelial erosions in Alport's syndrome

Burke, John P.; Talbot, J F; Clearkin, L G

doi:10.1111/j.1755-3768.1991.tb02041.x

Cited by 30 publications

(7 citation statements)

References 9 publications

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“…Superficial corneal erosions occur in ,10% of patients (3,35) but are intermittent and hence, seem to be less common. Their onset may precede the diagnosis of Alport syndrome and is often in the late teenage years.…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

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Ocular Features in Alport Syndrome

Savige

Sheth

Leys

et al. 2015

Clinical Journal of the American Society of Nephrology

173

150

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Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV a3a4a5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging.

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

“…Symptoms last 2-5 days and recur (35). Precipitants include working at a computer screen and irritation from the wind or contact lenses.…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Ocular Features in Alport Syndrome

Savige

Sheth

Leys

et al. 2015

Clinical Journal of the American Society of Nephrology

173

150

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“…It most often presents in the form of erosions or posterior polymorphous dystrophy from an abnormal Bowman's membrane and Descemet's membrane, respectively, in the subendothelium (1). Erosion could lead to the recurrent episodes of ocular pain, photophobia, or blurred vision lasting 2 to 5 days (8). Posterior polymorphous corneal dystrophy occurs less often than erosions, and includes symptoms of photophobia, epiphora, or grittiness (7).…”

Section: Discussionmentioning

confidence: 99%

Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome

Ratkovic¹

2021

Beyoglu Eye J

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Alport syndrome is a rare basement membrane disorder that may include ocular manifestations: dot-and-fleck retinopathy, anterior lenticonus, posterior polymorphous corneal dystrophy, or temporal macular thinning. It is primarily an X-linked inheritance condition (85%). This case report describes a 51-year-old male patient with Alport syndrome who was diagnosed due to ocular manifestations that were subsequently linked with a history of renal failure and bilateral sensorineural hearing loss. The diagnostic tools used were biomicroscopy, ultrasound, corneal topography, endothelial microscope analysis, macula optical coherence tomography, and fundus photography. Clear lens extraction was performed and improved his visual acuity. Further genetic analysis revealed a mutation in the COL4A5 gene on the X chromosome. Ocular manifestations can help determine the right diagnosis and help in multisystemic disease assessment. In cases of Alport syndrome, a nephrologist should be informed about the potential development of a specific antiglomerular basement membrane antibody that may lead to graft rejection. The patient's close relatives should also be examined.

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“…A tary clinical entity characterized by progressive hemorrhagic nephritis (with or without renal failure), bilateral high-tone sensorineural deafness and variable ocular features. The most consistent ocular findings are anterior lenticonus and retinal flecks in the midperipheral or macular retina (Govan 1983;Bhatnagar et al 1990;Rajeev & Thomas 1990;Burke et al 1991;Jacobs et al 1992), corneal arcus, anterior and posterior subcapsular cataract, optic disk drusen, anisocoria, iris atrophy and heterochromia (Govan 1983), and posterior lenticonus (Bhatnagar et al 1990;Deng 1991). Recurrent corneal epithelial erosion (Burke et al 1991) and macular degeneration (Setala & Ruusuvaara 1989) may be observed with this syndrome.…”

mentioning

confidence: 91%

Alport's syndrome with bilateral macular hole

Mete

Karaaslan

Özbilgin

et al. 1996

Acta Ophthalmologica Scandinavica

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In this study 8 patients with Alport's syndrome are presented. The ocular manifestations of these patients were retinal flecks, macular depigmentation, microspherophakia and anterior lenticonus. One patient revealed bilateral macular hole which was an unusual feature. Four patients had renal biopsies with the characteristic electron microscopic changes of the disease. According to these findings our conclusion is that Alport's syndrome is a disorder of selected basement membranes.

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Recurrent corneal epithelial erosions in Alport's syndrome

Cited by 30 publications

References 9 publications

Ocular Features in Alport Syndrome

Ocular Features in Alport Syndrome

Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome

Alport's syndrome with bilateral macular hole

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