iris melanoma is suspected the treatment is primarily sectoriridectomy.2 Because the size and appearance of the massin our patient suggested nevus, we did not believe tumorresection was indicated and initially elected observation.

Hyphema is also a recognized complication of other irisabnormalities. Photocoagulation has been used to treathyphema because of abnormal anterior chamber anglevessels,3 vascular tufts of the pupillary margin,4 and dis-placed intraocular lens haptics.5

Because of the increasing frequency of recurring hy-phema in our patient, with associated visual loss and risk ofglaucoma, we successfully treated the nevus surface withphotocoagulation. Based on our experience, photocoagu-lation can be considered a treatment option for recurrenthyphema associated with an iris nevus.

REFERENCES

1. Kurz GH, Zimmerman LE. Spontaneous hyphema and acuteglaucoma as initial signs of recurrent iris melanoma. ArchOphthalmol 1963;69:581–582.

2. Cleasby GW, Van Westenbrugge JA. Treatment of the irismelanoma by photocoagulation: a case report. OphthalmicSurg 1987;18:42–44.

3. de Corral LR, Conway M, Peyman GA, Constanteras A.Argon laser treatment of an abnormal angle vessel producingrecurrent hyphema. Int Ophthalmol 1985;8:179–182.

4. Bandello F, Brancato R, Rosangela L, Gisella M. Lasertreatment of iris vascular tufts. Ophthalmologica 1993;206:187–191.

5. Nicholson DH. Occult iris erosion: a treatable cause ofrecurrent hyphema in iris-supported intraocular lenses. Oph-thalmology 1982;89:113–120.

Familial Occurrence of RetinitisPunctata Albescens and CongenitalSensorineural DeafnessPaul J. Botelho, MD, Kevin J. Blinder, MD, andShahin Shahinfar, MD

PURPOSE: To report the cotransmission of retinitis punc-tata albescens (RPA) and congenital sensorineural deaf-ness.METHODS: Case reports of two siblings with nyctalopiaand profound bilateral sensorineural deafness.RESULTS: The affected siblings, an 11-year-old femaleand a 7-year-old male, presented with decreased visualacuity and night blindness. In both eyes of both siblings,

ophthalmoscopic evaluation disclosed numerous whitespots at the level of the retinal pigment epithelium withmacular sparing. The rod threshold dark adaptation andelectroretinogram tracings were consistent with advancedrod-cone degeneration.CONCLUSION: Two affected members of a family werefound to exhibit RPA and congenital sensorineural deaf-ness. This pedigree supports the genetic cotransmissionof the traits. (Am J Ophthalmol 1999;128:246–247.© 1999 by Elsevier Science Inc. All rights reserved.)

RETINITIS PUNCTATA ALBESCENS (RPA) IS A PROGRES-

sive hereditary retinal degeneration associated withdistinctive yellow-white spots at the level of the retinalpigment epithelium.1 Electrophysiologic studies of patientswith RPA typically disclose greater involvement of the rodsystem, with reduced scotopic waveforms in early cases ofRPA. Extinguished scotopic and photopic waveforms andincreased rod threshold on dark adaptation may be notedin advanced cases. Two siblings with nyctalopia andcongenital sensorineural hearing loss are presented.

An 11-year-old white female with a history of profoundcongenital sensorineural hearing loss was examined withthe complaint of decreased visual acuity and nyctalopia.Her best-corrected visual acuity was RE: 20/30 and LE:20/80. Slit-lamp biomicroscopy of the anterior segmentwas normal. In both eyes, indirect ophthalmoscopy showednumerous white flecks at the level of the retinal pigmentepithelium approximately 150 to 200 microns in diameter(Figure 1) that were widely distributed but spared themacula. The optic disks and retinal vessels were normal.

Accepted for publication Feb 5, 1999.From the 375th Medical Group, Department of Ophthalmology, Scott

Air Force Base, Illinois (Dr Botelho); the Barnes-Retina Institute, StLouis, Missouri (Dr Blinder); and Central Ohio Eye Institute, Columbus,Ohio (Dr Shahinfar). This study was supported in part by an unrestrictedgrant from Research to Prevent Blindness, Inc, New York, New York.

The conclusions drawn by the authors are their own and are notnecessarily supported or endorsed by the United States Air Force.

Inquiries to Paul J. Botelho, MD, SGCQSE, 310 Losey St, Scott AirForce Base, IL 62225; fax: (618) 256-7239; e-mail: Paul.Botelho@scott.af.mil

FIGURE 1. Case 1. Right eye had numerous white flecks at thelevel of the retinal pigment epithelium.

AMERICAN JOURNAL OF OPHTHALMOLOGY246 AUGUST 1999

Goldmann visual fields showed contraction of all isoptersbilaterally. The V4e isopter was 30 degrees from fixation inboth eyes. Her initial evaluation included a negativeFTA-ABS titer for syphilis.

The dark adaptation curve showed a 1-log unit increasein the final rod threshold. An electroretinogram wasperformed using a corneal contact lens and computeraveraging. Cones were isolated by means of flickeringwhite light at a frequency of 30 Hz and single-flash whitelight with sufficient background white light to eliminaterod contribution. No definite rod or cone response wasseen in the right eye. In the left eye, no rod response wasnoted whereas the amplitude for cone response was 3 uV(normal . 70). The responses were unchanged after 3hours of dark adaptation.

The visual acuity in both eyes was unchanged over the7-year course of observation. Goldmann visual field testingshowed progressive constriction of all isopters in each eye.No significant change in ophthalmoscopic appearance wasnoted.

The younger brother of the propositus was initiallyexamined at 7 years of age. He also had a history ofcongenital bilateral sensorineural deafness. His best-corrected visual acuity was RE: 20/40 and LE: 20/50. Inboth eyes, indirect ophthalmoscopy was remarkable fornormal disks and vasculature, and many discrete whitespots were scattered throughout the periphery that sparedthe macula. Granularity of the retinal pigment epitheliumwas evident at the equator and periphery. Goldmannvisual fields showed mild constriction of all isopters inbilateral view.

The final dark adaptation rod threshold was mildlyincreased. The electroretinogram, performed in a similarfashion to that in Patient 1, disclosed markedly reducedcone and rod responses. The visual acuity in each eye andophthalmoscopic examination have not changed over the7-year follow-up period. Progressive field constriction hasbeen noted.

The mother and two of the four siblings of the patientswere found to be normal by ophthalmoscopy and biomi-croscopy. The father and two remaining siblings, all asymp-tomatic, declined examination. The affected patients werethe only members of the family with a history of deafness.

The affected members of this family manifested thecharacteristic features of RPA over their course of obser-vation. They both had nyctalopia, progressive visual fieldconstriction, characteristic fundus appearance unchangedwith time, and markedly abnormal electroretinograms.

The transmission of the RPA trait in this family mostlikely represents an autosomal recessive inheritance pat-tern. The father by history and the mother by examinationwere unaffected, whereas two of six children, a female anda male, had phenotypic expression of the trait. Because thefather of the propositus was not examined, an autosomal-dominant mode of inheritance cannot be excluded.

The incidence of significant congenital sensorineural

hearing loss is one in 750 births. It has been estimated thatup to 50% of childhood sensorineural hearing impairmentcases result from genetic factors.2 A number of systemicdisorders with pigmentary retinopathy and deafness havebeen reported, such as Alport syndrome, Alstrom disease,Friedreich ataxia, Hurler syndrome, Refsum disease, andWaardenburg syndrome.3

Usher syndrome, the association of progressive rod-conedegeneration and congenital sensorineural hearing losswithout systemic disease, is present in 6% to 10% of thecongenitally deaf population and up to 10% of patientswith retinitis pigmentosa.4 Retinitis punctata albescens isdifferentiated from retinitis pigmentosa on the basis of itsdistinct ophthalmoscopic appearance.

The occurrence of congenital deafness only in thesubjects with RPA supports the genetic cotransmission ofboth traits. We are unaware of previous reports of thisassociation and could find no reference to it in a comput-erized search utilizing Medline. Given the genetic hetero-geneity of RPA,5 the transmission of the traits may be theresult of a novel gene mutation.

REFERENCES

1. Ellis DS, Heckenlively JR. Retinitis punctata albescens: fun-dus appearance and functional abnormalities. Retina 1983;3:27–31.

2. Davidson J, Hyde ML, Alberti PW. Epidemiologic patterns inchildhood hearing loss: a review. Int J Ped Otorhinolaryngol1989;17:239–266.

3. Brookhouser PE. Sensorineural hearing loss in children. In:Cummings CW, editor. Otolaryngology: head and neck sur-gery. St Louis: Mosby Year Book, 1993: 3080–3102.

4. Vernon M. Usher’s syndrome-deafness and progressive blind-ness: clinical cases, prevention, theory and literature survey.J Chron Dis 1969;22:133–151.

5. Souied E, Soubrane G, Benlian P, et al. Retinitis punctataalbescens associated with the Arg135Trp mutation in therhodopsin gene. Am J Ophthalmol 1996;121:19–25.

Idiopathic Central Retinal VeinOcclusion in a Thrombophilic PatientWith the Heterozygous 20210 G/AProthrombin GenotypeCarlo Incorvaia, MD, Giuseppe Lamberti, MD,Francesco Parmeggiani, MD, Paolo Ferraresi, BS,Elisa Calzolari, MD, Francesco Bernardi, PhD,and Adolfo Sebastiani, MD

Accepted for publication Feb 25, 1999.From the Departments of Ophthalmology (C.I., G.L., F.P., A.S.) and

Biochemistry and Molecular Biology (P.F., E.C., F.B.), University ofFerrara, Ferrara, Italy.

Inquiries to Adolfo Sebastiani, MD, Sezione di Clinica Oculistica,Dipartimento di Discipline Medico-Chirurgiche della Comunicazione edel Comportamento, Universita degli Studi di Ferrara, Corso Giovecca203, 44100 Ferrara, Italy; fax: 139 0532 247365; e-mail: sbd@dns.unife.it

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