nach oben

Documenta Ophthalmologica

Erschienen in:

01.06.2009 | Case report

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes

verfasst von: Manal Hajali, Gerald A. Fishman, Thaddeus P. Dryja, Meredith O. Sweeney, Martin Lindeman

Erschienen in: Documenta Ophthalmologica | Ausgabe 3/2009

Einloggen, um Zugang zu erhalten

Abstract

We report a case of an 11-year old Caucasian female with nyctalopia since early childhood with an atypical clinical presentation of fundus albipunctatus (FA), and a novel mutation in the RDH5 gene. In addition to white spots in the fundus, patchy areas of hypopigmentation were noted, which were reminiscent for an early stage of retinitis punctata albescens (RPA). Electroretinographic testing (ERG) showed a non-detectable, dark adapted, isolated rod response and a markedly decreased combined rod and cone response to an achromatic stimulus. After patching one eye overnight, both the isolated rod response and combined rod and cone scotopic white flash response were normal. A Goldmann-Weekers dark adapted final threshold response was also within the normal range. The patient showed a previously reported heterozygous mutation for Gly238Trp, and a novel Arg157Gln mutation. Genetic testing and extended ERG and psychophysical testing may be necessary to diagnose FA from early stages of progressive RPA.

Yamamoto H, Simon A, Eriksson U et al (1999) Mutations in the gene encoding 11-cis-retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 22(2):188–191. doi:10.1038/9707 PubMedCrossRef

Gonzalez-Fernandez F, Kurz D, Bao Y et al (1999) 11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis 5:41–45PubMed

Okada T, Ernst OP, Palczewski K, Hofmann KP (2001) Activation of rhodopsin: new insights from structural and biochemical studies. Trends Biochem Sci 26(5):318–324. doi:10.1016/S0968-0004(01)01799-6 PubMedCrossRef

McBee JK, Palczewski K, Baehr W, Pepperberg DR (2001) Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina. Prog Retin Eye Res 20(4):469–529. doi:10.1016/S1350-9462(01)00002-7 PubMedCrossRef

Carr RE (1974) Congenital stationary night blindness. Trans Am Ophthalmol Soc 72:448–487PubMed

Niwa Y, Kondo M, Ueno S et al (2005) Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. Invest Ophthalmol Vis Sci 46(4):1480–1485. doi:10.1167/iovs.04-0638 PubMedCrossRef

Nakamura M, Skalet J, Miyake Y (2003) RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. Doc Ophthalmol 107(1):3–11. doi:10.1023/A:1024498826904 PubMedCrossRef

Ellis DS, Heckenlively JR (1983) Retinitis punctata albescens: fundus appearance and functional abnormalities. Retina 3:27–31. doi:10.1097/00006982-198300310-00007 CrossRef

Humbert G, Delettre C, Sénéchal A (2006) Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci 47(11):4719–4724. doi:10.1167/iovs.05-1488 PubMedCrossRef

10.

Demirci FY, Rigatti BW, Mah TS, Gorin MB (2004) A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol 138(1):171–173. doi:10.1016/j.ajo.2004.02.060 PubMedCrossRef

11.

Fishman GA, Roberts MF, Derlacki DJ et al (2004) Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of inter-familial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol 122(1):70–75. doi:10.1001/archopht.122.1.70 PubMedCrossRef

12.

Nakamura M, Lin J, Ito Y, Miyake Y (2005) Novel mutations in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Am J Ophthalmol 139(6):1133–1135. doi:10.1016/j.ajo.2004.12.011 PubMedCrossRef

13.

Morimura H, Berson EL, Dryja TP (1999) Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci 40(5):1000–1004PubMed

14.

Burstedt M, Sandgren O, Holmegren G, Forsman-Semb K (1999) Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci 40(5):995–1000PubMed

15.

Maw MA, Kennedy B, Knight A et al (1997) Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet 17(2):198–200. doi:10.1038/ng1097-198 PubMedCrossRef

16.

Kajiwara K, Sandberg MA, Berson EL, Dryja TP (1993) A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 3(3):208–212. doi:10.1038/ng0393-208 PubMedCrossRef

17.

Souied E, Soubrane G, Benlian P, Coscas GJ et al (1996) Retinitis punctata albescens associated with the arg135-to-trp mutation in the rhodopsin gene. Am J Ophthalmol 121(1):19–25PubMed

18.

Peachey NS, Fishman GA, Derlacki DJ, Alexander KR (1988) Rod and cone dysfunction in carriers of X-linked retinitis pigmentosa. Ophthalmology 95(5):677–685PubMed

19.

Ripps H (1982) Night blindness revisited: from man to molecules. Proctor lecture. Invest Ophthalmol Vis Sci 23(5):588–609PubMed

20.

Granse L, Abrahamson M, Ponjavic V, Anderson S (2001) Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. Ophthalmic Genet 22(2):97–105. doi:10.1076/opge.22.2.97.2231 PubMedCrossRef

21.

Lidén M, Romert A, Tryggvason K, Persson B, Eriksson U (2001) Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. J Biol Chem 276(52):49251–49257. doi:10.1074/jbc.M107337200 PubMedCrossRef

22.

Iannaccone A, Tedesco SA, Gallaher KT et al (2007) Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol 115(2):111–116. doi:10.1007/s10633-007-9054-0 PubMedCrossRef

23.

Cideciyan AV, Haeseleer F, Fariss RN et al (2000) Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Vis Neurosci 17(5):667–678. doi:10.1017/S0952523800175029 PubMedCrossRef

24.

Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y (2000) A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci 41(12):3925–3932PubMed

Titel: Diagnosis in a patient with fundus albipunctatus and atypical fundus changes
verfasst von: Manal Hajali
Gerald A. Fishman
Thaddeus P. Dryja
Meredith O. Sweeney
Martin Lindeman
Publikationsdatum: 01.06.2009
Verlag: Springer-Verlag
Erschienen in: Documenta Ophthalmologica / Ausgabe 3/2009
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-008-9151-8

Update Augenheilkunde

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar "Chronische Unterbauch- und Viszeralschmerzen in der Praxis managen"

Springer Medizin

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes

Abstract

Neu im Fachgebiet Augenheilkunde

Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Bakterielle endogene Endophthalmitis

So erreichen Sie eine bestmögliche Wundheilung der Kornea

Update Augenheilkunde

Live-Webinar "Chronische Unterbauch- und Viszeralschmerzen in der Praxis managen"

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2009

Influence of narcotics on luminance and frequency modulated visual evoked potentials in rats

Response properties of electrically evoked potential elicited by multi-channel penetrative optic nerve stimulation in rabbits

A comparison of the suitability of cathode ray tube (CRT) and liquid crystal display (LCD) monitors as visual stimulators in mfERG diagnostics

ERG evaluation of daily, high-dose sildenafil usage

A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA)

Rod and S-cone driven ERG signals at high retinal illuminances

Neu im Fachgebiet Augenheilkunde

Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Bakterielle endogene Endophthalmitis

So erreichen Sie eine bestmögliche Wundheilung der Kornea

Update Augenheilkunde