ELECTRONIC LETTER

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

A Iannaccone¹, D K Breuer², X F Wang¹, S F Kuo³, E M Normando¹, E Filippova², A Baldi⁴, S Hiriyanna², C B MacDonald⁵, F Baldi⁴, D Cosgrove⁶, C C Morton⁷, A Swaroop², M M Jablonski¹

¹ Retinal Degeneration Research Center, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, USA
² Department of Ophthalmology & Visual Sciences and Department of Human Genetics, WK Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA
³ Speech and Hearing Bioscience and Technology Program, The Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA
⁴ Department of Biochemistry, Molecular Pathology Section, II Università di Napoli, Naples, Italy
⁵ Department of Otolaryngology, University of Tennessee Health Science Center, Memphis, TN, USA
⁶ Boys Town National Research Hospital, Omaha, NE, USA
⁷ Departments of Obstetrics, Gynecology and Reproductive Biology and Pathology, Brigham and Women’s Hospital, and Harvard Medical School, Boston, MA, USA

Correspondence to:
Correspondence to:
Dr A Iannaccone
University of Tennessee Health Science Center, Department of Ophthalmology, 956 Court Avenue, Suite D228, Memphis, TN, USA; iannacca@utmem.edu

Keywords: RPGR; Usher syndrome; hearing loss; respiratory tract infections; retinitis pigmentosa

Abbreviations: BMI, body mass index; BT, biotinylated tyramine; DAB, 3,3'-diaminobenzidine; ERG, electroretinogram; HL, hearing loss; MTI, myringotomy tube insertion; NHS, normal horse serum; PBS, phosphate buffered saline; PTA, pure tone audiometry; ROM, relapsing otitis media; RUTI, recurrent upper respiratory tract infections; RP, retinitis pigmentosa; XLRP, X linked recessive RP

The first 150 words of the full text of this article appear below.

Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration, affecting approximately 1 in 3500 individuals.^1,2 Classical RP is characterised by progressive night blindness and constriction of the peripheral visual fields, ultimately causing deterioration of the central vision in many patients. These symptoms are accompanied by ophthalmoscopically detectable degenerative and pigmentary changes of the retinal tissue and by reductions of the electrical retinal response to flashes of light using an electroretinogram (ERG). ERG abnormalities are typically present before any detectable retinal change becomes visible to clinical examination. RP can be transmitted by all inheritance modes, with X linked recessive RP (XLRP) accounting for 10–20% of genetically identifiable cases and being reportedly among the most severe forms.^1,2 To date, two of the genes responsible for XLRP have been cloned: RP2³ and the retinitis pigmentosa GTPase regulator, RPGR.^4,5RPGR accounts for the majority of XLRP.^6,7

RP or RP-like retinopathies . . . [Full text of this article]

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