Purpose To report a case of sporadic bilateral congenital retinal dystrophy and macular coloboma.
Methods A 19-year old Asian male born with bilateral poor VA, nyctolopia and horizontal nystagmus, was admitted into hospital because of blurred vision OD for one month. Detailed patient history was taken. Patient was examined by slit-lamp, followed by B-ultrasound, OCT, FFA, head CT, ERG and F-VEP. Patient accepted diagnostic victrectomy. Complete blood, aqueous humor and vitreous tests for virus, parasites and autoimmune disorder were conducted. Patient’s parents were also examined by slit-lamp. Results Patient’s vision maintained relatively stable with BCVA OD 20/80 OS 20/100 until declined to OD 20/250 OS 20/160 within one month after onset. Slit lamp found minor anterior chamber reaction OU and pigment in vitreous OD. Fundus scope showed RPE and retinochoroidal dystrophy of macular with hyerpigmented edges and optic disc leakage in both eyes; retinal detachment with exudates and dilated retinal vessel OD; RPE dystrophy in the peripheral retina OS. Results of B ultrasound, OCT and FFA confirmed the above findings. ERG revealed extinguishment of rod response. During vitrectomy, leakage of the edge of macular lesion was found but a very small round retina tear in the temporal peripheral retina was detected. Lab tests for infections and autoimmune disorders were negative. Examines of the parents were negative.
Conclusions A main cause of congenital macular coloboma is intrauterine infection, however, genetic factors should also be considered, especially for bilateral lesions. The macular coloboma sometimes combines with deficits of other eye tissues, including retinal dystrophy which could lead to rhegmatogenous retinal detachment. So patient and the should be thoroughly examined to avoid missed diagnosis. |
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