Título / Title

ISOLATED FOVEAL HYPOPLASIA: A CASE REPORT

Introdução / Purpose

The purpose of this study is to report a case and discuss the topic.

Material e Método / Methods

ID: A.O.M., 10 years old, male, student; CC: Patient in routine consultation to change glasses. No new complaints; PMH: Deny comorbidities and history of trauma; POH: report long-standing nystagmus, referring to having performed research, still with indefinite cause; PFH: history of nystagmus in younger sibling; Ophthalmic examination - BCVA: OD: 20/80 (-1.00 -2.75 x 175) and OS 20/80 (+0.25 -2.50 x 5). Ectoscopy: Horizontal nystagmus AO. Cover Alternate: ortoforia. Reflexes/Versions and Color test (Ishihara): normal. Biomicroscopy AO: clear conjunctiva, clear cornea, deem anterior chamber, trophic iris, photoreagent pupil, clear lens; IOP: 14/14 mmHg; Fundoscopy AO: well delimited optic disk, normal cup disk ratio, absence of foveal brightness, attached retina.

Resultados / Results

Complementary examinations: Retinography AO: well delimited optic disk, normal cup disk ratio, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area; Spectral domain OCT AO: showed absence of foveal depression and persistent inner retinal layers in the fovea.

Discussão e Conclusões / Conclusion

Isolated foveal hypoplasia as an isolated finding is a rare condition, although it has been commonly reported in patients with PAX6 gene-related albinism and aniridia. There is a decrease in visual acuity associated with nystagmus in all cases. In the absence of association with other conditions, clinical diagnosis can be easily lost due to the subtle nature of the fundus of the eye.

Palavras Chave

Isolated foveal hypoplasia; Nystagmus; Spectral domain OCT