Foveal Hypoplasia in a Child With Tyrosinase- Positive Albinism

被引：1

作者：

Kavalaraki, Alexandra ^{[1
]}

Paraskevopoulos, Konstantinos ^{[1
]}

Kavalaraki, Marianna ^{[2
]}

Karakosta, Christina ^{[3
]}

Liaskou, Maria ^{[1
]}

机构：

[1] Penteli Gen Childrens Hosp, Ophthalmol, Athens, Greece

[2] Athens Naval Hosp, Ophthalmol, Athens, Greece

[3] Korgialenio Benakio Hellen Red Cross Hosp, Ophthalmol, Athens, Greece

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 09期

关键词：

foveal hypoplasia; tyrosinase-positive albinism; oculocutaneous albinism (oca); oca2; iris transillumination; nystagmus; pendular nystagmus; oct (optical coherence tomography); OPTICAL COHERENCE TOMOGRAPHY; MORPHOLOGY;

D O I：

10.7759/cureus.44558

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The purpose of this article is to report a case of bilateral foveal hypoplasia in an eight-year-old girl who presented to the ophthalmology department due to poor vision in both eyes. Clinical examination revealed bilateral nystagmus, decreased vision, as well as iris transillumination. Dilated fundus examination indicated the absence of light reflex around the foveal area and optical coherence tomography (OCT) imaging exhibited the absence of the fovea centralis depression. These findings, in addition to the patient's light-colored hair and skin complexion, raised suspicion for albinism. The patient was referred for genetic testing and the results confirmed the diagnosis of tyrosinase-positive oculocutaneous albinism (OCA2).

引用

页数：4

共 14 条

[1] Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography [J].

Chong, Gabriel T. ;

Farsiu, Sina ;

Freedman, Sharon F. ;

Sarin, Neeru ;

Koreishi, Anjum F. ;

Izatt, Joseph A. ;

Toth, Cynthia A. .

ARCHIVES OF OPHTHALMOLOGY, 2009, 127 (01) :37-44

[2] Multimodal Imaging of Isolated Foveal Hypoplasia: A Case Report [J].

Degirmenci, Cumali ;

Afrashi, Filiz ;

Nalcaci, Serhad ;

Furundaoturan, Onur .

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, 2020, 50 (05) :321-323

[3] Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism [J].

Ehrenberg, Miriam ;

Bagdonite-Bejarano, Laura ;

Fulton, Anne B. ;

Orenstein, Naama ;

Yahalom, Claudia .

OPHTHALMIC GENETICS, 2021, 42 (03) :243-251

[4]

HENDRICKSON AE, 1984, OPHTHALMOLOGY, V91, P603

[5] HAIRBULB TYROSINASE ACTIVITY IN OCULOCUTANEOUS ALBINISM - SUGGESTIONS FOR PATHWAY CONTROL AND BLOCK LOCATION [J].

KING, RA ;

OLDS, DP .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (01) :49-55

[6] Foveal hypoplasia and optical coherence tomographic imaging [J].

Kondo, Hiroyuki .

TAIWAN JOURNAL OF OPHTHALMOLOGY, 2018, 8 (04) :181-188

[7] Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study [J].

Kuht, Helen J. ;

Maconachie, Gail D. E. ;

Han, Jinu ;

Kessel, Line ;

van Genderen, Maria M. ;

McLean, Rebecca J. ;

Hisaund, Michael ;

Tu, Zhanhan ;

Hertle, Richard W. ;

Gronskov, Karen ;

Bai, Dayong ;

Wei, Aihua ;

Li, Wei ;

Jiao, Yonghong ;

Smirnov, Vasily ;

Choi, Jae-Hwan ;

Tobin, Martin D. ;

Sheth, Viral ;

Purohit, Ravi ;

Dawar, Basu ;

Girach, Ayesha ;

Strul, Sasha ;

May, Laura ;

Chen, Fred K. ;

Jeffery, Rachael C. Heath ;

Aamir, Abdullah ;

Sano, Ronaldo ;

Jin, Jing ;

Brooks, Brian P. ;

Kohl, Susanne ;

Arveiler, Benoit ;

Montoliu, Lluis ;

Engle, Elizabeth C. ;

Proudlock, Frank A. ;

Nishad, Garima ;

Pani, Prateek ;

Varma, Girish ;

Gottlob, Irene ;

Thomas, Mervyn G. .

OPHTHALMOLOGY, 2022, 129 (06) :708-718

[8] Clinical Insights Into Foveal Morphology in Albinism [J].

McCafferty, Brandon K. ;

Wilk, Melissa A. ;

McAllister, John T. ;

Stepien, Kimberly E. ;

Dubis, Adam M. ;

Brilliant, Murray H. ;

Anderson, Jennifer L. ;

Carroll, Joseph ;

Summers, C. Gail .

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2015, 52 (03) :167-U124

[9] Increasing the complexity: new genes and new types of albinism [J].

Montoliu, Lluis ;

Gronskov, Karen ;

Wei, Ai-Hua ;

Martinez-Garcia, Monica ;

Fernandez, Almudena ;

Arveiler, Benoit ;

Morice-Picard, Fanny ;

Riazuddin, Saima ;

Suzuki, Tamio ;

Ahmed, Zubair M. ;

Rosenberg, Thomas ;

Li, Wei .

PIGMENT CELL & MELANOMA RESEARCH, 2014, 27 (01) :11-18

[10] Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [J].

Neveu, Magella M. ;

Padhy, Srikanta Kumar ;

Ramamurthy, Srishti ;

Takkar, Brijesh ;

Jalali, Subhadra ;

Deepika, C. P. ;

Padhi, Tapas Ranjan ;

Robson, Anthony G. .

CLINICAL OPHTHALMOLOGY, 2022, 16 :1569-1587

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