Título / Title

FOVEAL APLASIA GRADE 4 IN A PATIENT WITH GOOD VISUAL ACUITY AND MILD NISTAGMUS

Introdução / Purpose

Case report of a 86-years-old female with no ocular symptoms presenting with isolated grade 4 foveal aplasia, visual acuity better than expected and mild nistagmus.

Material e Método / Methods

A 86-years-old female patient presented herself for referral in the retina sector of our tertiary ophtalmology service. She was referred by the secundary municipality ophtalmology service to investigate bilateral foveal abnormalities. She denied any ophtalmology complaints, low visual acuity, nyctalopia, photophobia. In the ophtalmologic examination she presented with a mild nystagmus and best corrected visual acuity of 20/50 in both eyes. Anterior segment examination was unremarkable, with no media opacities. Fundoscopy examination showed a bilateral discrete foveal hypopigmentation.

Resultados / Results

We conducted multimodal examination in both eyes including: fundus autofluorescence, fundus retinography, fluorescein angyography and optical coherence tomography. Findings were simetrical for both eyes and included: abscence of foveal hypofluorescence; abscence of foveal avascular zone; abscence of foveal pit, extrusion of plexiform layers, OS lengthening, ONL widening in OCT. The patient was graded as grade 4 structural foveal aplasia according to Mervyn G. Thomas et al proposed structural classification.

Discussão e Conclusões / Conclusion

Foveal Aplasia is a congenital pathology, commonly associated with aniridia, microphthalmia, albinism, achromatopsia, nistagmus and low visual acuity, that can be graded based on foveal anatomical-histological structure. A proposed structural classification was proposed by Mervyn G. Thomas et al in 2011, with grade 4 representing total abscence of development of structural and anatomical fovea. Grade 4 patients median visual acuity was 20/120 (logMAR 0.78) and albinism were present in all patients. Our patient did not present with other conditions, ophtalmological complaints, had very mild nistagmus and BCVA of 20/50, despite presenting with grade 4 foveal aplasia.

Palavras Chave

foveal aplasia, aniridia, microphthalmia, albinism, achromatopsia, foveal hypoplasia, foveal avascular zone

Area

CLINICAL RETINA