Nanophthalmos with Retinitis Pigmentosa

Clinical Characteristics
Ocular Features: 

Poor vision is present beginning in childhood and may progress to hand motion or even loss of light perception when retinal detachments occur.  Nystagmus has been seen in one patient.  Corneal diameters were 11 mm, the angles were open, and axial lengths were shortened to about 17 mm.  Alternating areas of hypo- and hyperfluorescence are seen with fluorescein angiography corresponding to areas with pigment clumping seen throughout the fundi.  The fundus pigmentation is atypical for retinitis pigmentosa, however, in spite of the title given by the authors.  No scotopic or photopic responses are seen on the ERG.  Drusen were present in the optic nerves. 

Systemic Features: 

No systemic disease is associated. 


A single family with affected male and female sibs has been reported and a homozygous nonsense mutation in exon 5 of the CRB1 gene (1q31-32.1) was present in both. 

Another recessive form of microphthalmia with retinitis pigmentosa plus has been reported (611040) without nanophthalmos features and having a mutation in the MFRP gene. True nanophthalmos with retinopathy (267760) has some features similar to the disorder described here but with macular cysts.  No responsible mutation has been identified in this disorder however. 

Treatment Options: 

Low vision aids might be helpful in early stages of the disease. 

Article Title: 


Zenteno JC, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C. Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. Am J Med Genet A. 2011 Apr 11. doi: 10.1002/ajmg.a.33862. [Epub ahead of print]

PubMedID: 21484995