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Case Reports
. 2024 Feb 9;16(2):e53891.
doi: 10.7759/cureus.53891. eCollection 2024 Feb.

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Ghufran Alarfaj  1 , Hassan Alhashim  2 , Horia M Alotaibi  3 , Mahdi Almubarak  1 , Jinan Alhamad  1
Affiliations
Case Reports

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Ghufran Alarfaj et al. Cureus. .

Abstract

Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.

Keywords: case report; foveal hypoplasia; nystagmus; optical coherence tomography (oct); visual acuity.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. OCT of the right eye revealed the absence of the foveal pit with the persistence of inner retinal layers in the foveolar area.
A: The color fundus photo shows a normal optic disc, normal vasculature, blunt fovea, and flat retina. B: The spectral domain macular OCT on 1 o'clock shows loss of foveal contour. C: The retinal thickness map shows normal central retinal thickness with some artifacts. D: The red free fundus photo shows a blunt fovea and flat retina. E: The spectral domain macular OCT on 7 o'clock shows loss of foveal contour. F: Multi-directions of OCT confirmed loss of foveal contour in all directions. OCT: optical coherence tomography
Figure 2
Figure 2. OCT of the left eye revealed the absence of the foveal pit with the persistence of inner retinal layers in the foveolar area.
A: The color fundus photo shows a normal optic disc, normal vasculature, blunt fovea, and flat retina. B: The spectral domain macular OCT on 1 o'clock shows loss of foveal contour. C: The retinal thickness map shows normal central retinal thickness with some artifacts. D: The red free fundus photo shows a blunt fovea and flat retina. E: The spectral domain macular OCT on 7 o'clock shows loss of foveal contour. F: Multi-directions of OCT confirmed loss of foveal contour in all directions. OCT: optical coherence tomography
Figure 3
Figure 3. Dark-adapted 3.0 ERG of both eyes.
A: OD right eye. B: OS left eye. ERG: electroretinogram
Figure 4
Figure 4. Dark-adapted 0.01 ERG of both eyes.
A: OD right eye. B: OS left eye. ERG: electroretinogram
Figure 5
Figure 5. Dark-adapted 10 ERG of both eyes.
A: OD right eye. B: OS left eye. ERG: electroretinogram
Figure 6
Figure 6. Light-adapted 3.0 ERG of both eyes
A: OD right eye. B: OS left eye. ERG: electroretinogram
Figure 7
Figure 7. Light-adapted 3.0 FLICKER ERG of both eyes.
A: OD right eye. B: OS left eye. ERG: electroretinogram
Figure 8
Figure 8. OCT of the right eye revealed the absence of the foveal pit.
A: The color fundus photo shows a normal optic disc, normal vasculature, blunt fovea, and flat retina. B: The spectral domain macular OCT on 1 o'clock shows loss of foveal contour. C: The retinal thickness map shows normal central retinal thickness with some artifacts. D: The red free fundus photo shows a blunt fovea and flat retina. E: The spectral domain macular OCT on 7 o'clock shows loss of foveal contour. F: Multi-directions of OCT confirmed loss of foveal contour in all directions. OCT: optical coherence tomography
Figure 9
Figure 9. OCT of the left eye revealed the absence of the foveal pit.
A: The color fundus photo shows a normal optic disc, normal vasculature, blunt fovea, and flat retina. B: The spectral domain macular OCT on 1 o'clock shows loss of foveal contour. C: The retinal thickness map shows normal central retinal thickness with some artifacts. D: The red free fundus photo shows a blunt fovea and flat retina. E: The spectral domain macular OCT on 7 o'clock shows loss of foveal contour. F: Multi-directions of OCT confirmed loss of foveal contour in all directions. OCT: optical coherence tomography
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