A patient with albinism and retinitis pigmentosa, a case report

Michalis Georgiou; Shaima Awadh Hashem; Michel Michaelides; Joseph G Chacko; Sami H Uwaydat

doi:10.1016/j.ajoc.2024.102068

A patient with albinism and retinitis pigmentosa, a case report

Am J Ophthalmol Case Rep. 2024 May 6:34:102068. doi: 10.1016/j.ajoc.2024.102068. eCollection 2024 Jun.

Authors

Michalis Georgiou^{1

2

3}, Shaima Awadh Hashem^{2

3}, Michel Michaelides^{2

3}, Joseph G Chacko¹, Sami H Uwaydat¹

Affiliations

¹ Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
² Moorfields Eye Hospital NHS Foundation Trust, City Road, London, EC1V 2PD, UK.
³ UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.

Abstract

Purpose: To present a case of molecularly confirmed oculocutaneous albinism (OCA) and retinitis pigmentosa (RP).

Observations: A 46-year-old male with a lifelong established diagnosis of OCA and baseline best corrected visual acuity (BCVA) of 20/200, presented for worsening visual acuity over the last few years. BCVA was light perception and hand motion at face for the right and left eye, respectively. Fundus exam showed hypopigmented fundi with visible choroidal vessels and blunted foveal reflexes in both eyes. Optical coherence tomography showed foveal hypoplasia and outer retinal degenerative changes not typical of OCA. Fundus autofluorescence (FAF) imaging showed focal areas of decreased signal at the fovea, similar to areas of atrophy in an age matched patient with PDE6A-RP. Genetic testing identified a homozygous disease-causing variant in TYR c.1467dup, p. (Ala490Cysfs*20) causing OCA, and a homozygous pathogenic variant c.304C > A, p. (Arg102Ser) in PDE6A causing autosomal recessive RP.

Conclusions and importance: This is the first report of a patient with OCA and RP. The lack of pigmentary changes can make the diagnosis of RP challenging in patients with albinism. FAF can show features suggestive of RP and genetic testing can establish the diagnosis. The findings described herein may help physicians diagnose an extremely rare phenotype.

Keywords: Albinism; Genetics; PDE6A; Phenotype; Retinal degeneration; Retinitis pigmentosa; TYR.

Publication types

Case Reports