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PHOTO ESSAY
Year : 2021  |  Volume : 8  |  Issue : 1  |  Page : 34-35

Bilateral isolated foveal hypoplasia without nystagmus


Centre for Sight, Delhi, India

Date of Submission09-Feb-2021
Date of Acceptance08-Oct-2021
Date of Web Publication27-Jan-2022

Correspondence Address:
Dr. Prachi Abhishek Dave
B-5/24, Safdarjung Enclave, Opp. Deer Park, Delhi - 110 024
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/erj.erj_2_21

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How to cite this article:
Dave PA, Harish HS. Bilateral isolated foveal hypoplasia without nystagmus. Egypt Retina J 2021;8:34-5

How to cite this URL:
Dave PA, Harish HS. Bilateral isolated foveal hypoplasia without nystagmus. Egypt Retina J [serial online] 2021 [cited 2022 Aug 13];8:34-5. Available from: https://www.egyptretinaj.com/text.asp?2021/8/1/34/336668



Foveal hypoplasia is defined as a complete absence of the foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area.[1] Foveal hypoplasia is almost always accompanied by nystagmus and is usually associated with other ocular disorders, such as aniridia, achromatopsia, and albinism.[2] Foveal hypoplasia as an isolated phenomenon is reportedly rare, with only a few anecdotal case reports published so far.[3] Our photo essay showcases the typical foveal hypoplasia on optical coherence tomography (OCT) in an 8-year-old boy with no nystagmus, no other ocular anomalies, and a best-corrected visual acuity of 6/9 in both eyes with − 0.75 cylinder at 5° [Figure 1] and [Figure 2].
Figure 1: Optical coherence tomography picture of the right eye with raster scans taken through the presumed foveal area showing complete loss of foveal pit and absence of extrusion of inner retinal layers

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Figure 2: Optical coherence tomography picture of the left eye with raster scans taken through the presumed foveal area showing complete loss of foveal pit and absence of extrusion of inner retinal layers

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  Discussion Top


Fovea hypoplasia and/or fovea plana are terms used synonymously; however, there is a difference. Marmor et al. suggested the term fovea plana for the condition where there is the absence of a foveal pit with a corresponding OCT picture, but foveal cone specialization is preserved functionally.[4] Our photo essay describes a case of fovea plana since he did not have any other ocular features associated with foveal hypoplasia. Our patient also had excellent visual acuity despite the foveal pit being absent, suggesting that probably the foveal pit may not be as significant as it was thought to be for good vision. Thomas et al.[5] have proposed an OCT-based classification system for patients with foveal hypoplasia. According to their classification, our case falls into Grade 4 foveal hypoplasia (absent foveal pit, absent OS lengthening, and absent outer nuclear layer (ONL) widening). It is interesting to note that patients with Grade 4 foveal hypoplasia have a poorer visual outcome; however, our case is anecdotal since our patient had Grade 4 foveal hypoplasia on OCT but had very good visual acuity. Our case is unique as our patient has bilateral isolated foveal hypoplasia without nystagmus and a good visual acuity despite a Grade 4 foveal hypoplasia on OCT.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Mota A, Fonseca S, Carneiro A, Magalhães A, Brandão E, Falcão-Reis F. Isolated foveal hypoplasia: Tomographic, angiographic and autofluorescence patterns. Case Rep Ophthalmol Med 2012;2012:864958.  Back to cited text no. 1
    
2.
Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, et al. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet 2014;22:703-6.  Back to cited text no. 2
    
3.
Querques G, Prascina F, Iaculli C, Delle Noci N. Isolated foveal hypoplasia. Int Ophthalmol 2009;29:271-4.  Back to cited text no. 3
    
4.
Marmor MF, Choi SS, Zawadzki RJ, Werner JS. Visual insignificance of the foveal pit: Reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol 2008;126:907-13.  Back to cited text no. 4
    
5.
Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology 2011;118:1653-60.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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