Macular foveal hypoplasia: clinical analysis of six cases with a literature review

doi:10.3877/cma.j.issn.1674-0785.2024.01.003

Abstract

Abstract:

Objective

The purpose of this study was to explore the clinical features associated with macular fovea hypoplasia through clinical analysis of six cases with a literature review.

Methods

A retrospective chart study was performed on six children clinically diagnosed with macular fovea hypoplasia to evaluate the clinical features associated with this condition.

Results

All the six patients had bilateral fovea hypoplasia. The age of the patients at examination ranged from 6 to 12 years, with an average age of (9.0±2.76) years. All the 12 eyes had +1.00D or more astigmatism, with best corrected visual acuity (BCVA) of 0.3 or above in 10 eyes. The patients involved had comorbidities such as albinism, ametropia, strabismus, congenital iris defect, and nystagmus. One of the patients underwent genetic testing, and the result showed a mutation in the GPR143 gene. In high-definition optical coherence tomography analysis, the foveal structure was absent or shallower in all patients, along with an incursion of inner retinal layers at the center of the foveal.

Conclusion

Foveal hypoplasia is an anatomic variation that occurs often in both eyes with or without visual and refractive abnormalities.

Key words: Foveal hypoplasia, Macular fovea, Optical coherence tomography

Yunqing Shi, Zhijun Chen, Jiaona Jing. Macular foveal hypoplasia: clinical analysis of six cases with a literature review[J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(01): 11-18.

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Figures/Tables 6

References 20

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序号	性别	年龄（岁）	眼别	BCVA		合并症	检查日期	CFT（µm）
序号	性别	年龄（岁）	眼别	右眼	左眼	合并症	检查日期	CFT（µm）
1	男	12	双	4.9（-4.50DS/-1.50DC*5°）	4.9（-3.25DS/-1.75DC*165°）	无	2022/10/5	294/296
2	男	8	双	4.7（0.00/-1.00DC*165°）	4.6（+0.50DS/-1.00DC*180°）	外斜视；眼球震颤	2022/11/14	297/273
3	女	6	双	4.5（+4.75DS/-3.00DC*180°）	4.5（+5.25DS/-3.00DC*9°）	先天性无虹膜；外斜视	2022/12/5	234/258
4	男	6	双	4.6（+1.50DS/-5.00DC*178°）	4.5（+1.00DS/-4.25DC*1°）	外斜视	2023/6/12	271/271
5	男	10	双	4.5（+3.50DS/-3.50DC*170°）	4.5（+2.75DS/-3.50DC*6°）	眼球震颤	2023/6/30	290/325
6	男	12	双	4.3（+1.50DS/-5.25DC*11°）	4.3（+3.75DS/-6.00DC*175°）	白化症；眼球震颤	2023/8/24	295/324

序号	性别	年龄（岁）	眼别	BCVA		合并症	检查日期	CFT（µm）
序号	性别	年龄（岁）	眼别	右眼	左眼	合并症	检查日期	CFT（µm）
1	男	12	双	4.9（-4.50DS/-1.50DC*5°）	4.9（-3.25DS/-1.75DC*165°）	无	2022/10/5	294/296
2	男	8	双	4.7（0.00/-1.00DC*165°）	4.6（+0.50DS/-1.00DC*180°）	外斜视；眼球震颤	2022/11/14	297/273
3	女	6	双	4.5（+4.75DS/-3.00DC*180°）	4.5（+5.25DS/-3.00DC*9°）	先天性无虹膜；外斜视	2022/12/5	234/258
4	男	6	双	4.6（+1.50DS/-5.00DC*178°）	4.5（+1.00DS/-4.25DC*1°）	外斜视	2023/6/12	271/271
5	男	10	双	4.5（+3.50DS/-3.50DC*170°）	4.5（+2.75DS/-3.50DC*6°）	眼球震颤	2023/6/30	290/325
6	男	12	双	4.3（+1.50DS/-5.25DC*11°）	4.3（+3.75DS/-6.00DC*175°）	白化症；眼球震颤	2023/8/24	295/324

序号	作者	题名	发表时间	病例数	性别	年龄（岁）	相关病史	视力障碍	眼别
1	黄玉仪等	双眼黄斑中心凹发育不全伴黄斑中心凹毛细血管	2021	1	男	49	糖尿病	否	双
2	付庆东等	双眼黄斑中心凹发育不全1例	2019	1	男	11	震颤、外斜视	是	双
3	彭晋妍等	先天性无虹膜一家系	2018	3	男1女2	3；7；28	震颤、无虹膜	是	双
4	王雨蒙等	双眼先天性黄斑发育不良误诊为弱视一例	2015	1	男	4	外斜视	是	双
5	王秀丽等	先天性黄斑发育不良一例	2010	1	女	19	震颤、外斜视	是	双
6	Sather Ιιι R等	Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia	2022	1	男	4	视中隔发育不良，眼球震颤	是	双
7	Sohaib R Rufai等	Handheld Optical Coherence Tomography in a Young Infant With Albinism and Fovea Plana	2021	1	男	0	白化病	不详	双
8	Ali Keles等	Septo-optic dysplasia with fovea plana: A case report	2020	1	女	12	视盘发育不良	是	双
9	Berrak Şekeryapan Gediz等	Multimodal Imaging in a Case of Fovea Plana Associated with Situs Inversus of the Optic Disc	2020	1	男	25	视盘发育不良	是	双
10	A Balon等	Absence of foveal avascular zone in two adult patients with mild hyperopia: Fovea plana	2020	2	女	47；66	无	是1否1	双
11	Simar R Singh等	Multimodal imaging of fovea plana in oculocutaneous albinism	2019	1	男	12	白化病	是	双
12	Lorane Bechet等	Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye	2019	1	男	9	无	是	左
13	Victor M Villegas等	Variable Clinical Profile of Fovea Plana in Normal Children	2018	6	男1女5	7-11	外斜视	是	双5右1
14	Laura Hernandez-Moreno等	Absent Foveal Pit, Also Known as Fovea Plana, in a Child without Associated Ocular or Systemic Findings	2018	1	男	9	无	是	双
15	Mohamed A Hamid等	Multimodal imaging in a patient with Prader-Willi syndrome	2018	1	男	30	PWS	是	左
16	Georgia Kaidonis等	The superficial and deep retinal capillary plexus in cases of fovea plana imaged by SD-OCT	2017	3	男2女1	26；46；55	震颤、糖尿病	是	双
17	X Benouaich等	Persistence of foveal capillary plexi in a case of fovea plana evident on OCT angiography	2017	1	男	12	无	是	双
18	Shangjun Jiang等	OCT Angiographic Findings in Glucose-6-Phosphate Dehydrogenase Deficiency	2017	1	男	19	G6PD缺乏症	是	双
19	Giuseppe Querques等	Multimodal Imaging of Diabetic Retinopathy in a Patient With Fovea Plana	2016	1	男	41	糖尿病	否	双
20	Alice D McTrusty等	Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs	2013	1	女	19	早产、高度近视	是	双
21	Agata Mota等	Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns	2012	2	男1女1	23；64	无	是	双
22	Ahmed A Al-Saleh等	Isolated foveal hypoplasia: report of a new case and detailed genetic investigation	2011	1	男	7	无	是	双
23	Giuseppe Querques等	Isolated foveal hypoplasia	2009	1	男	55	无	否	双
24	Michael F Marmor等	Visual Insignificance of the Foveal Pit: reassessment of foveal hypoplasia as fovea plana	2009	4	男3女1	10；20；26；26	白化病	是2否2	双

序号	作者	题名	发表时间	病例数	性别	年龄（岁）	相关病史	视力障碍	眼别
1	黄玉仪等	双眼黄斑中心凹发育不全伴黄斑中心凹毛细血管	2021	1	男	49	糖尿病	否	双
2	付庆东等	双眼黄斑中心凹发育不全1例	2019	1	男	11	震颤、外斜视	是	双
3	彭晋妍等	先天性无虹膜一家系	2018	3	男1女2	3；7；28	震颤、无虹膜	是	双
4	王雨蒙等	双眼先天性黄斑发育不良误诊为弱视一例	2015	1	男	4	外斜视	是	双
5	王秀丽等	先天性黄斑发育不良一例	2010	1	女	19	震颤、外斜视	是	双
6	Sather Ιιι R等	Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia	2022	1	男	4	视中隔发育不良，眼球震颤	是	双
7	Sohaib R Rufai等	Handheld Optical Coherence Tomography in a Young Infant With Albinism and Fovea Plana	2021	1	男	0	白化病	不详	双
8	Ali Keles等	Septo-optic dysplasia with fovea plana: A case report	2020	1	女	12	视盘发育不良	是	双
9	Berrak Şekeryapan Gediz等	Multimodal Imaging in a Case of Fovea Plana Associated with Situs Inversus of the Optic Disc	2020	1	男	25	视盘发育不良	是	双
10	A Balon等	Absence of foveal avascular zone in two adult patients with mild hyperopia: Fovea plana	2020	2	女	47；66	无	是1否1	双
11	Simar R Singh等	Multimodal imaging of fovea plana in oculocutaneous albinism	2019	1	男	12	白化病	是	双
12	Lorane Bechet等	Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye	2019	1	男	9	无	是	左
13	Victor M Villegas等	Variable Clinical Profile of Fovea Plana in Normal Children	2018	6	男1女5	7-11	外斜视	是	双5右1
14	Laura Hernandez-Moreno等	Absent Foveal Pit, Also Known as Fovea Plana, in a Child without Associated Ocular or Systemic Findings	2018	1	男	9	无	是	双
15	Mohamed A Hamid等	Multimodal imaging in a patient with Prader-Willi syndrome	2018	1	男	30	PWS	是	左
16	Georgia Kaidonis等	The superficial and deep retinal capillary plexus in cases of fovea plana imaged by SD-OCT	2017	3	男2女1	26；46；55	震颤、糖尿病	是	双
17	X Benouaich等	Persistence of foveal capillary plexi in a case of fovea plana evident on OCT angiography	2017	1	男	12	无	是	双
18	Shangjun Jiang等	OCT Angiographic Findings in Glucose-6-Phosphate Dehydrogenase Deficiency	2017	1	男	19	G6PD缺乏症	是	双
19	Giuseppe Querques等	Multimodal Imaging of Diabetic Retinopathy in a Patient With Fovea Plana	2016	1	男	41	糖尿病	否	双
20	Alice D McTrusty等	Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs	2013	1	女	19	早产、高度近视	是	双
21	Agata Mota等	Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns	2012	2	男1女1	23；64	无	是	双
22	Ahmed A Al-Saleh等	Isolated foveal hypoplasia: report of a new case and detailed genetic investigation	2011	1	男	7	无	是	双
23	Giuseppe Querques等	Isolated foveal hypoplasia	2009	1	男	55	无	否	双
24	Michael F Marmor等	Visual Insignificance of the Foveal Pit: reassessment of foveal hypoplasia as fovea plana	2009	4	男3女1	10；20；26；26	白化病	是2否2	双

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