The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults and are grouped together by similar clinical features …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes
genetic diagnosis cumbersome. An exome-sequencing approach was developed in which …

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease
caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which …

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

CLN7 disease is an autosomal recessive, childhood-onset neurodegenerative lysosomal
storage disorder caused by the defective lysosomal membrane protein CLN7. We have …

Importance Mutations in genes traditionally associated with syndromic retinal disease are
increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations …