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Bilateral giant macular hole in patient with Alport syndrome

Poster Details

First Author: F.Gil PORTUGAL

Co Author(s):    S. Brito   J. Costa   M. Marques   I. Regadas   J. Varela   J. Figueira   0   0 0   0 0   0 0   0 0

Abstract Details


To report a case of a bilateral giant full-thickness macular hole in a 40-year-old female with Alport Syndrome.


CRIO/CHUC – Centro de Responsabilidade Integrado de Oftalmologia, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal


Retrospective descriptive study of a case report based on information from clinical records and analysis of Retinography, Fundus Autofluorescence and Spectral Domain Optical Coherence Tomography.


A 40-year-old female myopic patient, previously diagnosed with Alport Syndrome and subject to vitrectomy due to a right eye (RE) macular hole 10 years earlier, with no clinical improvement, presented with metamorphopsia and reduced visual acuity in the left eye (LE) with 4 months of evolution. Best corrected visual acuity was 20/800 in RE (-5,00 D) and 20/100 in the LE (-4,00 D). Axial length was 23,79 mm in the RE and 23,63 mm in the LE. The slit lamp biomicroscopy showed transparent ocular media and there was no evidence of lenticonus. Fundoscopy revealed bilateral giant macular hole. Optic coherence tomography documented the presence of bilateral full-thickness macular hole, with aperture size measured at the narrowest hole width of 2115 µm (RE) and 1026 µm (LE). Proposed to pars plana vitrectomy with inverted internal limiting membrane flap technique, the patient declined surgery.


There are variable ocular abnormalities that may be associated with Alport Syndrome, the most frequent of which are anterior lenticonus and central and peripheral retinopathies. Association with giant macular hole is extremely rare, with very few cases described so far, but it is an important cause of reduced visual acuity. Its pathogenesis is unknown, probably related to the widespread disorder of basement membranes type IV collagen, characteristic of Alport Syndrome, affecting internal limiting membrane and retina pigment epithelium basement membrane-Bruch membrane-choroidal complex. Alport syndrome–associated macular holes appear to be different from idiopathic macular holes as they tend to be larger and to appear earlier in patient’s life. Basement membrane thinning and lamellation and an abnormal vitreoretinal interface probably account for the unsatisfactory results obtained with conventional therapeutic strategies in this subset of patients.

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