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TitreIncidental Retinal Atrophy Revealing Alport Syndrome in a 23-Year-Old
ButTo report a clinical case of inner retinal atrophy seen on a 23-year-old woman with no prior ophthalmological history, leading to the diagnosis of Alport syndrome.
MéthodesA 23-year-old girl was sent for an ophthalmological evaluation because of bilateral temporal thinning of the inner retina. Best-corrected visual acuity was 6/10 bilaterally. A complete eye examination was carried out along with spectral-domain optical coherence tomography (SD-OCT). Further systemic history and investigations were also conducted, consisting of audiometry, urine examination, and nephrologic evaluation.
RésultatsOn fundus examination, minimal temporal inner retinal atrophy was seen in both eyes. OCT confirmed focal thinning of the inner retinal layers with normal outer retinal configuration. The patient had no prior eye complaints but presented with a history of prolonged usage of a hearing aid. Audiometry confirmed bilateral sensorineural hearing loss. Urinalysis confirmed significant proteinuria. Further anamnesis revealed consanguinity of the parents. Nephrologic examination confirmed the diagnosis of Alport syndrome.
ConclusionThis case highlights the importance of subtle retinal findings for the diagnosis of systemic genetic diseases. Presence of inner retinal atrophy despite the absence of visual complaint warrants further evaluation, more so with associated hearing loss or renal abnormality. Timely diagnosis of Alport syndrome is critical for timely management and genetic counseling.
Conflit d'intérêtNon
Auteurs 1
InitialesR
NomVan Schoor
InstitutUZ Brussel
VilleBrussel
Auteurs 2
InitialesC
NomDe Sutter
InstitutUZ Brussel - VITAZ Sint-Niklaas
VilleBrussel
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