Retinitis Pigmentosa 38

Clinical Characteristics
Ocular Features: 

This is a rare clinically heterogeneous condition in which both rods and cones functions are variably affected.  It is a progressive disorder with children often being aware of night vision difficulties during the latter half of the first decade of life.  Reduced vision is often present at this time as well and progressively deteriorates.  Visual fields are constricted to 20-30 degrees.  Rod responses may be nondetectable in the first decade.

Central vision is subnormal as early as childhood and progressively worsens with age.  Dyschromatopsia to some degree is often present early as well and some patients have a maculopathy with a bull’s eye pattern and thinning of the photoreceptor layer seen on OCT.  Attenuated retinal vessels, pale optic discs, and variable fundus pigmentary changes (including pigmentary mottling and bone spicules) have been seen.  The degree and course of the photoreceptor damage is variable leading some to propose that RP38 is primarily a cone-rod dystrophy.

Systemic Features: 



This is an autosomal recessive disorder resulting from homozygous mutations in the MERTK gene (2q13).

Treatment Options: 

No treatment has been reported but young people especially could benefit from low vision aids and special education therapy.

Article Title: 


Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53.

PubMedID: 22180149

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis. 2010 Mar 9;16:369-77.

PubMedID: 20300561