Rare Ocular Manifestation with Suspect Alport Syndrome

Česká verzia

Authors: I. Krejčířová ¹; B. Varadyová ¹; Z. Doležel ²; R. Autrata ¹; J. Matušová ³; E. Gregorová ³
Authors place of work: Dětská oční klinika, Fakultní nemocnice, Brno, přednosta prof. MUDr. Rudolf Autrata, CSc., MBA ¹; Pediatrická klinika, Fakultní nemocnice, Brno, přednosta prof. MUDr. Zdeněk Doležel, CSc. ²; Klinika nemocí očních a optometrie, Fakultní nemocnice U sv. Anny, Brno, přednosta doc. MUDr. Svatopluk Synek, CSc. ³
Published in the journal: Čes. a slov. Oftal., 70, 2014, No. 3, p. 114-118
Category: Kazuistika

Summary

The authors mention a case report of a 13 year old girl with renal disease, who visited the outpatient Department of Pediatric Ophthalmology, University Hospital Brno with subjective complaints on decreased vision of both eyes.

Ophthalmologic examination showed physiological foveolar reflex on fundus and very discrete changes of the retinal pigment epithelium in macula, the fundus periphery was without pathology.

OCT images showed bilateral atrophy of central macula and changes at the level of the photoreceptors.

The authors describe a rare ocular manifestation of macular atrophy with suspect Alport syndrome, which strengthened the suspicion of this disease.

The authors also mention other possible ocular manifestations of Alport syndrome and compare the findings with the up to date international references.

Key words:
Alport syndrome, X heterozygot Alport syndrome, macular atrophy, lentikonus

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