[Skip to Content]
[Skip to Content Landing]
September 1986

X-linked Recessive Retinitis PigmentosaClinical Characteristics of Carriers

Author Affiliations

From the Department of Ophthalmology, Eye and Ear Infirmary, University of Illinois College of Medicine at Chicago.

Arch Ophthalmol. 1986;104(9):1329-1335. doi:10.1001/archopht.1986.01050210083030

• We evaluated 46 carriers of X-linked recessive retinitis pigmentosa for the prevalence of fundus changes, refractive errors, central visual impairment, and electroretinographic abnormalities. Of the 46 carriers, 40 (87%) could be identified by characteristic fundus changes and 37 (86%) of 43 by reductions in electroretinographic amplitude. Interestingly, 36 carriers (78%) had a refractive cylindrical correction of +1.50 diopters (D) or greater in at least one eye, while 25 (54%) had a best corrected visual acuity of 20/30 or less in at least one eye. Fundus examination coupled with an electroretinographic recording was diagnostic of the carrier state in virtually all 46 patients. The presence of a refractive cylinder of +1.50 D or greater should appreciably increase the index of suspicion when assessing the possibility of the carrier state in X-linked retinitis pigmentosa.

References 1, 3, 5, 7, 9-11, 13, 15-18, 24.
Falls HF, Cotterman CW:  Choroidoretinal degeneration: A sex-linked form in which heterozygous women exhibit a tapetal-like retinal reflex . Arch Ophthalmol 1948;40:685-703.Article
McKenzie DS:  The inheritance of retinitis pigmentosa in one family . Trans Ophthalmol Soc NZ 1951;5:79-82.
Weiner RL, Falls HF:  Intermediate sex-linked retinitis pigmentosa . Arch Ophthalmol 1955;53:531-535.
Kobayashi F:  Genetic study on retinitis pigmentosa . Jpn J Ophthalmol 1960;4:82-88.
Francois J:  Chorioretinal degeneration or retinitis pigmentosa of intermediate sex-linked heredity . Doc Ophthalmol 1962;16:111-127.Article
Jacobson JH, Stephens G:  Hereditary choroidoretinal degeneration: Study of a family including electroretinography and adaptometry . Arch Ophthalmol 1962;67:75-89.
Schappert-Kimmiser J:  Les degenerescences tapeto-retiniennes du type x chromosomal aux pays-bas . Bull Mem Soc Fr Ophtalmol 1963; 76:122-129.
Hoarse GW:  Choroido-retinal dystrophy . Br J Ophthalmol 1965;49:449-459.Article
Goodman G, Ripps H, Siegel IM:  Sex-linked ocular disorders: Trait expressivity in males and carrier females . Arch Ophthalmol 1965;73:387-398.Article
Klein D, Franceschetti A, Hussels I, et al:  X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups . Lancet 1967;1:974-975.Article
Krill AE:  Observations of carriers of X-chromosomal-linked chorioretinal degenerations: Do these support the 'inactivation hypothesis'? Am J Ophthalmol 1967;64:1029-1040.
Berson EL, Gouras P, Gunkel RD, et al:  Rod and cone responses in sex-linked retinitis pigmentosa . Arch Ophthalmol 1969;81:215-225.Article
Bird AC, Bloch RK:  X-linked recessive fundus dystrophies and their carrier states . Trans Ophthalmol Soc UK 1970;90:127-138.
Warburg M:  Random inactivation of the X-chromosome in intermediate X-linked retinitis pigmentosa, two hypotheses . Trans Ophthalmol Soc UK 1971;91:553-560.
Imaizumi K, Takahashi R, Tazawa Y, et al:  Clinical and electrophysiological observations on genetic carriers of retinitis pigmentosa in a family (pedigree Tt) showing sex-linked inheritance . Adv Exp Med Biol 1972;24:301-307.
Jay B, Bird A:  X-linked retinitis pigmentosa . Trans Am Acad Ophthalmol Otolaryngol 1973;77:641-651.
Bird AC:  X-linked retinitis pigmentosa . Br J Ophthalmol 1975;59:177-199.Article
Berson EL, Rosen JB, Simonoff EA:  Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa . Am J Ophthalmol 1979;87:460-468.
Gieser DK, Fishman GA, Cunha-Vaz J:  X-linked recessive retinitis pigmentosa and vitreous fluorophotometry: A study of female heterozygotes . Arch Ophthalmol 1980;98:307-310.Article
Merin S, Maggiano JM, Fishman GA:  Retinal sensitivity under photopic conditions in patients with retinitis pigmentosa and carriers of the X-linked recessive form . Metab Pediatr Syst Ophthalmol 1978;2:225-229.
Arden GB, Carter RM, Hogg CR, et al:  A modified ERG technique and the results obtained in X-linked retinitis pigmentosa . Br J Ophthalmol 1983;67:419-430.Article
Bird AC, Hyman V:  Detection of heterozygotes in families with X-linked pigmentary retinopathy by measurement of retinal rhodopsin concentration . Trans Ophthalmol Soc UK 1972; 92:221-228.
Ernst W, Clover G, Faulkner DJ:  X-linked retinitis pigmentosa: Reduced rod flicker sensitivity in heterozygous females . Invest Ophthalmol Vis Sci 1981;20:812-816.
Frost WA:  Unusually well-marked retinal reflex . Trans Ophthalmol Soc UK 1902;22:208-209.
Mann I: Developmental Abnormalities of the Eye . New York, JB Lippincott Co, 1957, p 150.
Fishman GA, Buckman G, Van Every T:  Fundus flavimaculatus: A clinical classification . Doc Ophthalmol Proc Series 1977;13:213-220.
Warburg M, Simonsen SE:  Sex-linked recessive retinitis pigmentosa: A preliminary study of the carriers . Acta Ophthalmol 1968; 46:494-499.Article
Usher CH:  On a few hereditary eye affections . Trans Ophthalmol Soc UK 1935;55:164-245.
Berson EL, Rosner B, Simonoff E:  Risk factors for genetic typing and detection in retinitis pigmentosa . Am J Ophthalmol 1980;89:763-775.
Francois J, Verriest G:  Étude biometrique de la retinopathie pigmentaire . Ann Ocul 1962;195:937-951.
Jain IS, Singh K:  A clinical study of primary retinitis pigmentosa . Oriental Arch Ophthalmol 1967;5:99-104.
Waardenburg PJ:  Genetics and the human eye , in Waardenburg PJ, Franceschetti A, Klein D (eds): Genetics and Ophthalmology . Springfield, Ill, Charles C Thomas Publishers, 1961, pp 1-187.
Sorsby A, Sheridan M, Leary GA, et al:  Vision, visual acuity, and ocular refraction of young men . Br Med J 1960;1:1394-1398.Article
Lyle WM:  Changes in corneal astigmatism with age . Am J Optom Physiol Opt 1971;48:467-478.Article
Falls HF:  Detection of the carrier state of genetically determined eye diseases , in Congenital Anomalies of the Eye: Transactions of the New Orleans Academy of Ophthalmology . St Louis, CV Mosby Co, 1968, pp 34-52.
Lyon MF:  Gene action in the X chromosome of the mouse (Mus musculus L.) . Nature 1961;190:372-373.Article
Fishman GA:  Retinitis pigmentosa: Genetic percentages . Arch Ophthalmol 1978;96:822-826.Article