Nine foveal hypoplasia patients in a family_Chinese Journal of Ocular Fundus Diseases

Authors：

Cui Tingting ,  Li Zhi

Department of Ophthalmology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao 266035, China;

Corresponding author：

Li Zhi, Email: lizhi_victory@163.com

Keywords：

Foveal hypoplasia; Tomography, optical coherence; Foveal avascular zone

DOI：

10.3760/cma.j.cn511434-20220207-00067

Video：

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Objective To observe the clinical features of nine foveal hypoplasia (FVH) patients in a family. Methods A retrospective clinical study. In August 2018, nine patients with FVH from a family diagnosed in Qilu Hospital of Shandong University (Qingdao) were included in this study. Detailed medical history of the proband was collected. Best corrected visual acuity (BCVA), slit-lamp, cycloplegic refraction, fundus color photography, optical coherence tomography (OCT) and OCT angiography (OCTA) were performed on the proband. The peripheral venous blood of V7 (family member), the proband and the proband's parents were collected for DNA extraction, and gene detection was performed. Results The proband, a four-year-old girl, had poor vision with BCVA of 0.4 in both eyes. OCT showed absence of foveal pit, absence of outer segment lengthening, absence of outer nuclear layer widening and incursion of inner retinal layers. The proband's mother was 32 years old, and macular foveal reflection was not observed in her eyes. OCT and OCTA examination showed no foveal pit and foveal avascular zone in both eyes. Both eyes of the proband and her mother were diagnosed with Thomas grade 4 FVH. The other seven patients also had no foveal pit, and could be categorized into Thomas grade 3 or 4. No significant pathogenic genes and mutation sites were detected in the proband through whole genome sequencing, and no copy number variation or chromosomal abnormality associated with the phenotype of the proband was detected. After seven months of amblyopia treatment, the proband's BCVA had improved to 0.5 in the right eye and 0.6 in the left eye, while the BCVA did not change after 2 years of follow-up. Conclusion Nine FVH patients in this family had no foveal pit with similar OCT images, and their visual acuity was affected from lightly to severely. Early amblyopia training is helpful to improve the visual acuity of child patients.

Citation： Cui Tingting, Li Zhi. Nine foveal hypoplasia patients in a family. Chinese Journal of Ocular Fundus Diseases, 2023, 39(7): 565-568. doi: 10.3760/cma.j.cn511434-20220207-00067 Copy

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12.	Harvey PS, King RA, Summers CGSpectrum of foveal development in albinism detected with optical coherence tomography[J]. J AAPOS2006103237242. DOI:10.1016/j.jaapos.2006.01.008.
13.	Marmor MF, Choi SS, Zawadzki RJ, et alVisual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana[J]. Arch Ophthalmol20081267907913. DOI:10.1001/archopht.126.7.907.
14.	付庆东, 刘彩辉, 金姬双眼黄斑中心凹发育不全1例[J]. 中国斜视与小儿眼科杂志20192734229. DOI:10.3969/J.ISSN.1005-328X.2019.03.014..Fu QD, Liu CH, Jin JA case of bilateral foveal hypoplasia[J]. Chinese Journal of Strabismus & Pediatric Ophthalmology20192734229. DOI:10.3969/J.ISSN.1005-328X.2019.03.014.

1. Kondo HFoveal hypoplasia and optical coherence tomographic imaging[J]. Taiwan J Ophthalmol201884181188. DOI:10.4103/tjo.tjo_101_18.
2. Matsushita I, Morita H, Kondo HAutosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations[J]. Jpn J Ophthalmol2020646635641. DOI:10.1007/s10384-020-00766-9.
3. Azuma N, Nishina S, Yanagisawa H, et alPAX6 missense mutation in isolated foveal hypoplasia[J]. Nat Genet1996132141142. DOI:10.1038/ng0696-141.
4. Poulter JA, Al-Araimi M, Conte I, et alRecessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism[J]. Am J Hum Genet201393611431150. DOI:10.1016/j.ajhg.2013.11.002.
5. Iqbal MM, Makar IUnilateral isolated foveal hypoplasia[J]. Can J Ophthalmol2018533e107e109. DOI:10.1016/j.jcjo.2017.08.022.
6. Asakawa K, Ishikawa H. Electroretinography and pupillography in unilateral foveal hypoplasia[J]. J Pediatr Ophthalmol Strabismus, 2016, 53 Online: e26-e28. DOI:10.3928/01913913-20160509-04.
7. Thomas MG, Kumar A, Mohammad S, et alStructural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?[J]. Ophthalmology2011118816531660. DOI:10.1016/j.ophtha.2011.01.028.
8. Dubis AM, Hansen BR, Cooper RF, et alRelationship between the foveal avascular zone and foveal pit morphology[J]. Invest Ophthalmol Vis Sci201253316281636. DOI:10.1167/iovs.11-8488.
9. Springer AD, Hendrickson AEDevelopment of the primate area of high acuity. 1. Use of finite element analysis models to identify mechanical variables affecting pit formation[J]. Vis Neurosci20042115362. DOI: 10.1017/s0952523804041057.
10. Curran RE, Robb RMIsolated foveal hypoplasia[J]. Arch Ophthalmol19769414850. DOI:10.1001/archopht.1976.03910030014005.
11. Giocanti-Auregan A, Witmer MT, Radcliffe NM, et alIsolated foveal hypoplasia without nystagmus[J]. Int Ophthalmol2014344877880. DOI:10.1007/s10792-014-9900-5.
12. Harvey PS, King RA, Summers CGSpectrum of foveal development in albinism detected with optical coherence tomography[J]. J AAPOS2006103237242. DOI:10.1016/j.jaapos.2006.01.008.
13. Marmor MF, Choi SS, Zawadzki RJ, et alVisual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana[J]. Arch Ophthalmol20081267907913. DOI:10.1001/archopht.126.7.907.
14. 付庆东, 刘彩辉, 金姬双眼黄斑中心凹发育不全1例[J]. 中国斜视与小儿眼科杂志20192734229. DOI:10.3969/J.ISSN.1005-328X.2019.03.014..Fu QD, Liu CH, Jin JA case of bilateral foveal hypoplasia[J]. Chinese Journal of Strabismus & Pediatric Ophthalmology20192734229. DOI:10.3969/J.ISSN.1005-328X.2019.03.014.

Chinese Journal of Ocular Fundus Diseases

Nine foveal hypoplasia patients in a family

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