First Author: M.Rashad UK
Co Author(s): O. Mahroo M. Shunmugam Z. Shalchi D. Goldsmith F. Flinter M. Mohamed
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Several reports have described thinning of the inner retina temporal to the foveal centre in some patients with Alport syndrome. In this study, we sought to explore the retinal thinning phenomenon in more details using spectral domain OCT (optical coherence tomography).
Retinal and clinical genetics departments of a large teaching hospital in London, UK.
Patients with a clinical or molecular diagnosis of Alport syndrome and their relatives were invited to participate in an ocular phenotyping study, undergoing non-invasive anterior and posterior segment imaging including spectral domain OCT scans (3D-OCT, Topcon Corporation, Japan; Spectralis, Heidelberg Engineering, Heidelberg, Germany). The study had local research ethics committee and institutional review board approval.
Images were taken from the eyes of 36 participants (including 14 male and 7 female patients with X-linked mutations, and seven patients with autosomal recessive Alport syndrome). Ages ranged from 13 to 72 years. A number of patients (including one female with X-linked Alport syndrome) demonstrated inner retinal thinning of the temporal macula. Hyperreflectivity of the inner limiting membrane was seen. In two male patients (one with X-linked and another with autosomal recessive Alport syndrome) the thinning was seen clearly to extend also nasal to the foveal centre (as defined by the location of cone photoreceptor outer segment elongation).
Our findings demonstrate that females with X-linked mutations can also demonstrate the inner retinal thinning, and also that the “temporal macular thinning” previously described in Alport patients can extend nasal to the foveal centre. With a larger cohort, we plan to explore specific genotype-phenotype correlations.