Phacoemulsification and 1% atropine eye drops for treatment of antimetropic congenital microcoria associated with cataracts

Congenital Microcoria: Clinical Features and Molecular Genetics

“…Consistent with the observation of partial or total dilation inability among affected individuals, varying dilator muscle anomalies have also been described—from peripheral to generalized dearth or absence of stromal contractile processes of the anterior iris epithelium [ 8 , 9 , 10 , 11 , 21 , 34 , 35 , 38 , 39 ]. Existing myofibrils can be normal in appearance, particularly behind the sphincter muscle and in the intermediary region [ 33 ], or greatly disordered and lack myofilaments and desmin [ 9 , 28 , 33 , 34 , 35 , 37 ]. Thickened fibrobrotic and vacuolated dilator muscle can be observed [ 37 ].…”

“…This was substantiated in 1923 by a Norwegian ophthalmologist and pathologist, who provided a detailed clinical description of the ocular phenotype in three siblings combined with a post mortem anatomical analysis of the eyes of two of them who had died of apoplexia cerebri [ 33 ]. This study, along with subsequent post mortem analyses of irises and iridectomy specimens from 25- to 72-year-old individuals, revealed significant iris thinning with atrophy of the stroma, displaying a normal ultrastructure and abundant collagen fibrils but greater numbers of fibroblasts and melanocytes in the ground substance [ 11 , 28 , 32 , 34 , 35 , 36 , 37 ]. Consistent with the observation of partial or total dilation inability among affected individuals, varying dilator muscle anomalies have also been described—from peripheral to generalized dearth or absence of stromal contractile processes of the anterior iris epithelium [ 8 , 9 , 10 , 11 , 21 , 34 , 35 , 38 , 39 ].…”

“…This study, along with subsequent post mortem analyses of irises and iridectomy specimens from 25- to 72-year-old individuals, revealed significant iris thinning with atrophy of the stroma, displaying a normal ultrastructure and abundant collagen fibrils but greater numbers of fibroblasts and melanocytes in the ground substance [ 11 , 28 , 32 , 34 , 35 , 36 , 37 ]. Consistent with the observation of partial or total dilation inability among affected individuals, varying dilator muscle anomalies have also been described—from peripheral to generalized dearth or absence of stromal contractile processes of the anterior iris epithelium [ 8 , 9 , 10 , 11 , 21 , 34 , 35 , 38 , 39 ]. Existing myofibrils can be normal in appearance, particularly behind the sphincter muscle and in the intermediary region [ 33 ], or greatly disordered and lack myofilaments and desmin [ 9 , 28 , 33 , 34 , 35 , 37 ].…”

“…Like glaucoma, myopia was demonstrated to be correlated with congenital miosis in the multigenerational Breton family (Fisher’s exact test: p < 0.0001) and was also prevalent in the Indian (15 out of 18 microcoric individuals were myopic [ 30 ]) and Japanese (five out of five considered [ 9 ]) families. The review of all the cases indicates that at least 70% of individuals displaying congenital microcoria were myopic, half of whom suffered from glaucoma, knowing that 95% of individuals suffering glaucoma were myopic [ 21 , 30 , 33 , 35 , 39 , 49 ]. Of note, in the three-generation Indian family [ 29 , 30 ], glaucomatous subjects displayed higher refraction errors (mean: −12.5 Diopters (D); SEM: 4.67 D) than their counterparts with normal IOP (mean: −2 D; SEM: 0.41 D; Wilcoxon test: p = 0.040).…”

“…Elevated IOP in some of these cases may play a role in axial elongation of the eye. However, myopia is also frequent in individuals with congenital miosis and normal ocular tension (57% of the cases for whom both IOP and refraction information were available) [ 21 , 30 , 33 , 35 , 39 , 49 ]. For example, an individual from the multiplex family that was described by Holth and Berner in 1923 presented with high myopia at age 30 (−7 D, −8 D) and an even higher refraction error at age 52 (−15 D, −16 D) but normal IOP, leaving the mechanisms behind axial length elongation in congenital miosis an open question [ 33 ].…”