Familial cases of macular coloboma have roused the possibility of genetic aetiology.
We report a 14-year old boy with an unusual presentation of extensive bilateral macular coloboma with planovalgus feet dynamics and left foot drop due to anterior horn cell disease.
Ida Mann classified macular coloboma into three types, pigmented, non-pigmented and macular coloboma associated with abnormal vessels.
Cases of bilateral and unilateral macular coloboma have been reported in the literature with other ocular and systemic associations.
Freedman et al have described bilateral macular coloboma with keratoconus and retinitis pigmentosa.
Chen et al described a case of bilateral macular coloboma with aggregation of pigment clumps and speculated that it is developmental abnormality in nature.
Sorsby in his summary of macular coloboma has described a pedigree of a mother and five of her eight children who all had bilateral macular coloboma, nail abnormalities and apical dystrophy of hands and feet.
Phillips and Griffith reported a brother and sister who had bilateral macular coloboma, cleft palate, hallux valgus and other abnormalities.
Smith RD et al reported association of severe short-limbed dwarfism and macular coloboma with histology resembling diastrophic dysplasia and postulated it to be a syndrome of as yet unknown cause.
JooYoun Oh et al have explained optical coherence tomographic findings in a macular coloboma. They showed a crater-like depression accompanying atrophic neuro-sensory retina and an absence of retinal pigment epithelium and choroid.
To conclude, this patient had macular coloboma and an adjacent area of scarring which may postulate an intrauterine inflammation as the cause, albeit serology being negative.
Sporadic occurrence of macular coloboma with no abnormalities in parents or siblings may grossly rule out a genetic element, but the associated skeletal, neurological and behavioural abnormalities may hint towards a syndrome of unknown aetiology.