Congenital Miosis

Congenital Microcoria: Clinical Features and Molecular Genetics

“…Cases of glaucoma in individuals with congenital miosis were sporadically reported in 1949 and the following decades [ 40 , 46 , 47 , 48 ]. Studying over 40 members of a Breton family spanning five generations—the oldest of whom were evaluated in the 1960s [ 49 ], Toulemont and coll.…”

“…Similar observations were made for a four-generation Indian pedigree comprising 18 individuals with congenital miosis, 11 of whom had glaucoma [ 30 ] and a three-generation Japanese family of which four out of five members had glaucoma [ 9 ]. In total, glaucoma or high IOP has been reported in association with congenital miosis in 36 individuals from eight families [ 8 , 9 , 10 , 30 , 31 , 40 , 46 , 47 , 48 , 50 , 51 , 52 ], whereas absence of glaucoma is mentioned in 71 patients. Diagnoses were made as early as ages seven [ 8 , 10 ] and 12 [ 30 ], but mostly in individuals in their early twenties [ 8 , 9 , 10 , 30 , 31 , 50 ] or thirties [ 9 , 30 , 47 , 51 ] (median age at diagnosis = 25 years).…”

“…The etiology of glaucoma in congenital miosis is obscure. Occasionally, gonioscopic examination has revealed shallow anterior chambers and narrow angles, which might contribute to glaucoma [ 40 , 47 ]. The vast majority of individuals with both congenital miosis and glaucoma display wide-open chamber angles, although with prominent iris processes expanding over the TM and, in most cases, a high insertion of the iris root into Schwalbe’s line, the TM, or the scleral spur [ 8 , 9 , 46 , 50 , 51 ].…”

Congenital Microcoria: Clinical Features and Molecular Genetics

“…Cases of glaucoma in individuals with congenital miosis were sporadically reported in 1949 and the following decades [ 40 , 46 , 47 , 48 ]. Studying over 40 members of a Breton family spanning five generations—the oldest of whom were evaluated in the 1960s [ 49 ], Toulemont and coll.…”

“…Similar observations were made for a four-generation Indian pedigree comprising 18 individuals with congenital miosis, 11 of whom had glaucoma [ 30 ] and a three-generation Japanese family of which four out of five members had glaucoma [ 9 ]. In total, glaucoma or high IOP has been reported in association with congenital miosis in 36 individuals from eight families [ 8 , 9 , 10 , 30 , 31 , 40 , 46 , 47 , 48 , 50 , 51 , 52 ], whereas absence of glaucoma is mentioned in 71 patients. Diagnoses were made as early as ages seven [ 8 , 10 ] and 12 [ 30 ], but mostly in individuals in their early twenties [ 8 , 9 , 10 , 30 , 31 , 50 ] or thirties [ 9 , 30 , 47 , 51 ] (median age at diagnosis = 25 years).…”

“…The etiology of glaucoma in congenital miosis is obscure. Occasionally, gonioscopic examination has revealed shallow anterior chambers and narrow angles, which might contribute to glaucoma [ 40 , 47 ]. The vast majority of individuals with both congenital miosis and glaucoma display wide-open chamber angles, although with prominent iris processes expanding over the TM and, in most cases, a high insertion of the iris root into Schwalbe’s line, the TM, or the scleral spur [ 8 , 9 , 46 , 50 , 51 ].…”

Angle closure in younger patients

“…93 Angle closure in younger patients has also been reported in association with various syndromes not represented in our series (Table IX). These include Turner's syndrome, 94,95 Alagille syndrome, 96 childhood cystinosis, 14 oculodentodigital dysplasia, 97,98 congenital microcoria, 99,100 and familial exudative vitreoretinopathy.…”

Congenital Microcoria: Clinical Features and Molecular Genetics

“…Cases of glaucoma in individuals with congenital miosis were sporadically reported in 1949 and the following decades [ 40 , 46 , 47 , 48 ]. Studying over 40 members of a Breton family spanning five generations—the oldest of whom were evaluated in the 1960s [ 49 ], Toulemont and coll.…”

“…Similar observations were made for a four-generation Indian pedigree comprising 18 individuals with congenital miosis, 11 of whom had glaucoma [ 30 ] and a three-generation Japanese family of which four out of five members had glaucoma [ 9 ]. In total, glaucoma or high IOP has been reported in association with congenital miosis in 36 individuals from eight families [ 8 , 9 , 10 , 30 , 31 , 40 , 46 , 47 , 48 , 50 , 51 , 52 ], whereas absence of glaucoma is mentioned in 71 patients. Diagnoses were made as early as ages seven [ 8 , 10 ] and 12 [ 30 ], but mostly in individuals in their early twenties [ 8 , 9 , 10 , 30 , 31 , 50 ] or thirties [ 9 , 30 , 47 , 51 ] (median age at diagnosis = 25 years).…”

“…The etiology of glaucoma in congenital miosis is obscure. Occasionally, gonioscopic examination has revealed shallow anterior chambers and narrow angles, which might contribute to glaucoma [ 40 , 47 ]. The vast majority of individuals with both congenital miosis and glaucoma display wide-open chamber angles, although with prominent iris processes expanding over the TM and, in most cases, a high insertion of the iris root into Schwalbe’s line, the TM, or the scleral spur [ 8 , 9 , 46 , 50 , 51 ].…”

Angle closure in younger patients

“…93 Angle closure in younger patients has also been reported in association with various syndromes not represented in our series (Table IX). These include Turner's syndrome, 94,95 Alagille syndrome, 96 childhood cystinosis, 14 oculodentodigital dysplasia, 97,98 congenital microcoria, 99,100 and familial exudative vitreoretinopathy.…”

Congenital Microcoria: Clinical Features and Molecular Genetics

“…Cases of glaucoma in individuals with congenital miosis were sporadically reported in 1949 and the following decades [ 40 , 46 , 47 , 48 ]. Studying over 40 members of a Breton family spanning five generations—the oldest of whom were evaluated in the 1960s [ 49 ], Toulemont and coll.…”

“…Similar observations were made for a four-generation Indian pedigree comprising 18 individuals with congenital miosis, 11 of whom had glaucoma [ 30 ] and a three-generation Japanese family of which four out of five members had glaucoma [ 9 ]. In total, glaucoma or high IOP has been reported in association with congenital miosis in 36 individuals from eight families [ 8 , 9 , 10 , 30 , 31 , 40 , 46 , 47 , 48 , 50 , 51 , 52 ], whereas absence of glaucoma is mentioned in 71 patients. Diagnoses were made as early as ages seven [ 8 , 10 ] and 12 [ 30 ], but mostly in individuals in their early twenties [ 8 , 9 , 10 , 30 , 31 , 50 ] or thirties [ 9 , 30 , 47 , 51 ] (median age at diagnosis = 25 years).…”

“…The etiology of glaucoma in congenital miosis is obscure. Occasionally, gonioscopic examination has revealed shallow anterior chambers and narrow angles, which might contribute to glaucoma [ 40 , 47 ]. The vast majority of individuals with both congenital miosis and glaucoma display wide-open chamber angles, although with prominent iris processes expanding over the TM and, in most cases, a high insertion of the iris root into Schwalbe’s line, the TM, or the scleral spur [ 8 , 9 , 46 , 50 , 51 ].…”

Angle closure in younger patients

“…93 Angle closure in younger patients has also been reported in association with various syndromes not represented in our series (Table IX). These include Turner's syndrome, 94,95 Alagille syndrome, 96 childhood cystinosis, 14 oculodentodigital dysplasia, 97,98 congenital microcoria, 99,100 and familial exudative vitreoretinopathy.…”