+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen



A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen



American Journal of Ophthalmology 146(2): 323-328



To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen. Observational case report. Three affected subjects and one healthy sibling from a consanguineous marriage from Spain were studied. Complete ophthalmologic examinations including A- and B-mode ultrasonography (US), electroretinography (ERG), fluorescein retinal angiography (FA), and optical coherence tomography (OCT) were performed in each individual. Genetic analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the complete MFRP gene. All three affected siblings had bilateral shortening of the posterior ocular segment associated with high hyperopia and normal anterior segment dimensions. Best-corrected visual acuity ranged from 20/200 to 20/60. Funduscopy, ERG, and FA were compatible with retinitis pigmentosa, and B-mode ultrasound showed optic disk drusen. OCT analysis revealed outer retinal layer schisis with absence of foveal pit. Inheritance of this syndrome followed an autosomal recessive pattern. Molecular analysis revealed a novel homozygous 1-bp deletion (c.498delC) in exon 5 of MFRP, predicting a prematurely truncated protein (P166fsX190). A healthy sister demonstrated to be a carrier of the mutation. We confirmed that the syndrome of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen constitutes a distinct autosomal recessive entity. The novel frameshift mutation identified in the family described here validates MFRP as the gene responsible for this particular disease, which characteristically involves structures located at the posterior segment of the eye.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 029736326

Download citation: RISBibTeXText

PMID: 18554571

DOI: 10.1016/j.ajo.2008.04.029


Related references

Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome. Retinal Cases and Brief Reports 9(1): 61-63, 2015

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). Ophthalmology. Retina 2(11): 1162, 2019

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Molecular Vision 12: 1483-1489, 2006

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Molecular Vision 15: 1794-1798, 2009

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. Molecular Vision 18: 2447-2453, 2013

Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. Ophthalmology 106(3): 619-622, 1999

Drusen of the optic disk in retinitis pigmentosa. American Journal of Ophthalmology 103(1): 44-47, 1987

Drusen of the optic disk head in retinitis pigmentosa hrt, oct findings related to visual field damage. ARVO Annual Meeting Abstract Search & Program Planner : Abstract No 4884, 2003

Pseudoneuritis and drusen of the optic disk in Alport's syndrome. Klinische Monatsblatter für Augenheilkunde 152(3): 379-383, 1968

Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. American Journal of Ophthalmology 133(2): 275-276, 2002

Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. Journal of Aapos 15(3): 299-301, 2011

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. Bmc Ophthalmology 17(1): 107, 2017

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. American Journal of Medical Genetics. Part a 155a(5): 1001-1006, 2011

Nonarteritic anterior ischemic optic neuropathy in a child with optic disk drusen. Journal of Aapos 16(2): 207-209, 2012

Comparison of functional findings with results of standardized echography of the optic nerve in optic disk drusen. Wiener Klinische Wochenschrift 107(21): 651-653, 1995