Prophylactic Laser Photocoagulation in Hereditary Snowflake Vitreoretinal Degeneration

Leber Congenital Amaurosis With Large Retinal Pigment Clumps Caused by Compound Heterozygous Mutations in Kcnj13

“…2,[7][8][9] However, in both LCA and snowflake vitreoretinal degeneration caused by KCNJ13 mutations, there is early-onset cataract, some retinal vessel sheathing and vitreous veils or fibrosis in front of the optic disk, as it is seen from fundus pictures reported in previous reports. 1 Our patient also had these particular features and possibly a few spots of subretinal fibrosis in the left eye.…”

Leber Congenital Amaurosis With Large Retinal Pigment Clumps Caused by Compound Heterozygous Mutations in Kcnj13

“…2,[7][8][9] However, in both LCA and snowflake vitreoretinal degeneration caused by KCNJ13 mutations, there is early-onset cataract, some retinal vessel sheathing and vitreous veils or fibrosis in front of the optic disk, as it is seen from fundus pictures reported in previous reports. 1 Our patient also had these particular features and possibly a few spots of subretinal fibrosis in the left eye.…”

Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

“…2,3 Although this condition was first reported in 1973, only one other family with a clearly identical phenotype has been reported. 26,27 Snowflake vitreoretinal degeneration is an autosomal dominant condition characterized by fibrillar anomaly of the vitreous, peripheral retinal abnormalities including minute crystalline deposits resembling snowflakes, and early-onset cataracts. Systemic abnormalities such as hearing loss, cleft palate, midface hypoplasia, and arthropathy seen in Stickler syndrome are absent.…”

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis

“… 24 Previous reports have described several ocular features associated with KCNJ13- related SVD, including corneal guttae, early onset cataracts, fibrillar vitreous degeneration, and crystalline snowflake deposits in the peripheral retina. 11 , 25 , 26 , 27 , 28 , 29 , 30 , 31 In all 4 cases, the OCT findings were documented using different terms, such as retinoschisis, maculoshisis, and cystoid macular edema, based on the treating physician's clinical evaluation. Because of these potential confounding factors, we describe the structural findings while noting that myopia and vitreomacular traction may contribute to the schisis-like changes.…”

Leber Congenital Amaurosis With Large Retinal Pigment Clumps Caused by Compound Heterozygous Mutations in Kcnj13

“…2,[7][8][9] However, in both LCA and snowflake vitreoretinal degeneration caused by KCNJ13 mutations, there is early-onset cataract, some retinal vessel sheathing and vitreous veils or fibrosis in front of the optic disk, as it is seen from fundus pictures reported in previous reports. 1 Our patient also had these particular features and possibly a few spots of subretinal fibrosis in the left eye.…”

Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

“…2,3 Although this condition was first reported in 1973, only one other family with a clearly identical phenotype has been reported. 26,27 Snowflake vitreoretinal degeneration is an autosomal dominant condition characterized by fibrillar anomaly of the vitreous, peripheral retinal abnormalities including minute crystalline deposits resembling snowflakes, and early-onset cataracts. Systemic abnormalities such as hearing loss, cleft palate, midface hypoplasia, and arthropathy seen in Stickler syndrome are absent.…”

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis

“… 24 Previous reports have described several ocular features associated with KCNJ13- related SVD, including corneal guttae, early onset cataracts, fibrillar vitreous degeneration, and crystalline snowflake deposits in the peripheral retina. 11 , 25 , 26 , 27 , 28 , 29 , 30 , 31 In all 4 cases, the OCT findings were documented using different terms, such as retinoschisis, maculoshisis, and cystoid macular edema, based on the treating physician's clinical evaluation. Because of these potential confounding factors, we describe the structural findings while noting that myopia and vitreomacular traction may contribute to the schisis-like changes.…”

Leber Congenital Amaurosis With Large Retinal Pigment Clumps Caused by Compound Heterozygous Mutations in Kcnj13

“…2,[7][8][9] However, in both LCA and snowflake vitreoretinal degeneration caused by KCNJ13 mutations, there is early-onset cataract, some retinal vessel sheathing and vitreous veils or fibrosis in front of the optic disk, as it is seen from fundus pictures reported in previous reports. 1 Our patient also had these particular features and possibly a few spots of subretinal fibrosis in the left eye.…”

Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

“…2,3 Although this condition was first reported in 1973, only one other family with a clearly identical phenotype has been reported. 26,27 Snowflake vitreoretinal degeneration is an autosomal dominant condition characterized by fibrillar anomaly of the vitreous, peripheral retinal abnormalities including minute crystalline deposits resembling snowflakes, and early-onset cataracts. Systemic abnormalities such as hearing loss, cleft palate, midface hypoplasia, and arthropathy seen in Stickler syndrome are absent.…”

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis

“… 24 Previous reports have described several ocular features associated with KCNJ13- related SVD, including corneal guttae, early onset cataracts, fibrillar vitreous degeneration, and crystalline snowflake deposits in the peripheral retina. 11 , 25 , 26 , 27 , 28 , 29 , 30 , 31 In all 4 cases, the OCT findings were documented using different terms, such as retinoschisis, maculoshisis, and cystoid macular edema, based on the treating physician's clinical evaluation. Because of these potential confounding factors, we describe the structural findings while noting that myopia and vitreomacular traction may contribute to the schisis-like changes.…”