Rossi Settimio, Testa Francesco, Gargiulo Annagiusi, Di Iorio Valentina, Pierri Raffaella Brunetti, D'Alterio Francesco Maria, Corte Michele Della, Surace Enrico, Simonelli Francesca
Department of Ophthalmology, Second University of Naples, Naples, Italy.
Case Rep Ophthalmol. 2012 Jan;3(1):113-7. doi: 10.1159/000337489. Epub 2012 Mar 27.
Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal hypoplasia, translucency of the iris, macular transparency, photophobia and abnormal decussation of nerve fibers at the chiasm.
An 8-year-old Caucasian girl presented to our clinic 'Referral Center for Hereditary Retinopathies' of the Second University of Naples with a diagnosis of Stargardt disease and a progressive reduction in visual acuity in both eyes. She underwent a complete ophthalmic examination including standard electroretinography and optical coherence tomography (OCT). A molecular analysis was also performed. Best-corrected visual acuity was 20/30 in the right eye and 20/40 in the left eye. Biomicroscopy of the anterior segment revealed a transparent cornea, in situ and transparent lens and normally pigmented iris. A mild diffuse depigmentation and macular dystrophy were observed at fundus examination. Standard electroretinography showed normal scotopic and photopic responses. OCT revealed high reflectivity across the fovea without depression. The typical OCT pattern led us to direct the molecular analysis towards the genes involved in oculocutaneous albinism. The molecular analysis identified mutations in the TYR gene.
In this case, the role of OCT was crucial in guiding the molecular analysis for the diagnosis of albinism. OCT is therefore instrumental in similar cases that do not present typical characteristics of a disease. The case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases.
眼皮肤白化病是一组常染色体隐性疾病，其特征为头发、皮肤和眼睛色素沉着不足。与该疾病相关的眼部体征包括眼球震颤、视力下降、视网膜色素沉着不足、黄斑发育不全、虹膜半透明、黄斑透明度、畏光以及神经纤维在视交叉处的异常交叉。
一名8岁的白种女孩前往那不勒斯第二大学的“遗传性视网膜病变转诊中心”就诊，被诊断为斯塔加特病，双眼视力逐渐下降。她接受了包括标准视网膜电图和光学相干断层扫描（OCT）在内的全面眼科检查。还进行了分子分析。最佳矫正视力右眼为20/30，左眼为20/40。眼前节生物显微镜检查显示角膜透明、晶状体原位透明且虹膜色素正常。眼底检查发现轻度弥漫性色素脱失和黄斑营养不良。标准视网膜电图显示暗适应和明适应反应正常。OCT显示黄斑区高反射率且无凹陷。典型的OCT模式使我们将分子分析指向眼皮肤白化病相关基因。分子分析确定了TYR基因中的突变。
在该病例中，OCT在指导白化病诊断的分子分析中起关键作用。因此，OCT在不具备疾病典型特征的类似病例中具有重要作用。该病例还证明了分子分析在遗传性视网膜疾病临床诊断确认中的相关性。
