UNASSIGNED: @entity726 is one of the primary causes of @entity227 and @entity1939 in the world. It is characterized by the damage to the optic nerve head and @entity227 . Variants in @entity4188 are the most common cause of @entity726 in different world populations. We studied a consanguineous Pakistani family in which three affected individuals had a severe form of @entity726 with members in one generation diagnosed with juvenile-onset @entity1538 at 27years of age, while the members of the next generation were affected with primary @entity10064 with onset at birth. Sequencing of @entity4188 revealed a homozygous transition variant, @entity70193 , @entity16183 which co-segregated with the disease phenotype. This variant has been previously reported to cause both recessively and dominantly inherited PCG and JOAG in different populations. However, this reported for the first time in Pakistani PCG and JOAG @entity1 in a homozygous state. This is also the first ever report of a @entity4188 variant segregating in a consanguineous family with co-existence of JOAG and PCG in two subsequent generations. This observation of different phenotypes due to an identical mutation suggests that primary @entity10064 and juvenile-onset @entity1538 can both be caused by homozygosity for the same mutation. It also indicates the reduced penetrance of the variant in those affected due to @entity16183 mutation and further implies that modifiers have a role in controlling the time of onset of the disorder.

Homozygous @entity16183 mutation in a consanguineous Pakistani family with co-existence of juvenile-onset @entity1538 and primary XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity227 :: ('MESH:D014786', 'Disease') :: ['visual impairment', 'visual field loss'] @entity16183 :: ('p|SUB|G|61|E', 'ProteinMutation') :: ['p.G61E'] @entity1538 :: ('MESH:D005902', 'Disease') :: ['open angle glaucoma'] @entity4188 :: ('1545', 'Gene') :: ['CYP1B1'] @entity726 :: ('MESH:D005901', 'Disease') :: ['Glaucoma', 'glaucoma'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity70193 :: ('c|SUB|G|182|A', 'DNAMutation') :: ['c.182G>A'] @entity10064 :: ('MESH:C565547', 'Disease') :: ['congenital glaucoma']
@entity10064 :: (MESH:C565547,Disease) :: ['congenital glaucoma']
