ABSTRACT
Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin‑19 (CLDN‑19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN‑19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.
ABSTRACT
A 13-year-old male presented with decreased vision and squint from childhood. He had bilateral large colobomata at the macula in each eye, the one on the right being larger than the left. The disc was dragged temporally with straightening of the temporal retinal vessels. This is a case report of bilateral large macular coloboma and serves to report its association with a temporally dragged disc and straightened temporal retinal vessels. A dragged disc if present with a colobomatous defect at the macula may strengthen the case for diagnosis of macular coloboma and help exclude other differentials.
ABSTRACT
PURPOSE: To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS: A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS: The OCT revealed the crater-like depression in the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium and choroid in the lesion. FA showed hypofluorescence corresponding to the size of the lesion in both early and late frames without leakage of dye at any stage. CONCLUSIONS: The OCT can be beneficial to confirm the diagnosis of macular coloboma.
Subject(s)
Child , Humans , Male , Coloboma/diagnosis , Fluorescein Angiography , Macula Lutea/abnormalities , Tomography, Optical Coherence/standardsABSTRACT
Macular coloboma is a rare atypical form of choroidal coloboma which develop secondary to intrauterine infection or developmental abnormality of the eye. These are usually oval or round with well defined margin sized from less than 1 disc diameter to 10 disc diameters. The macular coloboma was classified into pigmented type, non-pigmented type, and type associated with presence of abnormal vessels. We experienced two cases of macular coloboma, without any family history or other associated physical abnormalities. The first case showed pigmented type in the right eye and intermediated type between pigmented and non-pigmented type in the left eye and the second case showed macular coloboma with abnormal vessels.