Abstract
The term “retinitis punctata albescens” (RPA) was first coined by Mooren in 1882 to describe a form of retinitis with glistening white spots in the fundus. The following year, Gayet [12] indicated that night blindness was associated with these spots. In 1910, Lauber proposed that among flecked retinae, RPA, a progressive retinal degeneration, was to distinguish from the “fundus albipunctatus cum haemeralopia”, which is stationary. Healy in 1921 provided a precise description of RPA, including night blindness, restriction of visual field, presence of “hundreds of whitish, yellow opaque spots” in the fundus and “resemblance with early cases of retinitis pigmentosa”, and Bedell in 1949 did an extensive review of the literature. In the 1950s, the first electroretinographic evaluations were performed [30, 33]. Since then, RPA was reported as a non-syndromic retinal degeneration, but it was occasionally found in association with lenticonus [1], Friedreich ataxia [34], Senior-Loken syndrome [10], Bardet-Biedl syndrome [25] and congenital sensorineural deafness [3]. Therefore, the term “RPA” may be applied to distinct forms of retinal dystrophies and, as such, appear as a descriptive symptom rather than as a disease. However, when mutations were discovered in RLBP1 [4, 21, 23], it became clear that RPA was a particular clinical and genetic entity.
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References
Banerjee BD, Das AB. Tapeto retinal degeneration (progressive retinitis punctata albescens) with anterior and posterior lenticonus (a case report). Indian J Ophthalmol. 1972;20(4):183–4.
Bedell AJ. Retinitis punctata albescens. Trans Am Ophthalmol Soc. 1949;47:262–75.
Botelho PJ, Blinder KJ, Shahinfar S. Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness. Am J Ophthalmol. 1999;128(2):246–7.
Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999;40(5):995–1000.
Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Arch Ophthalmol. 2001;119(2):260–7.
Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L. Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study. Doc Ophthalmol. 2008;116(3):193–205.
Burstedt MS, Golovleva I. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation. Arch Ophthalmol. 2010;128(8):989–95.
Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol. 2004;138(1):171–3.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002;70(4):955–64.
Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA, Kunh JM. Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. Clin Nephrol. 1976;5(1):14–9.
Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 2004;122(1):70–5.
Gayet A. Arch Ophtalmol. 1883;3:386.
Genead MA, Fishman GA, Lindeman M. Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens. Ophthalmic Genet. 2010;31(2):66–72.
Gränse L, Abrahamson M, Ponjavic V, Andréasson S. Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. Ophthalmic Genet. 2001;22(2):97–105.
He X, Lobsiger J, Stocker A. Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. Proc Natl Acad Sci U S A. 2009;106(44):18545–50. Epub 2009 Oct 21.
Healy JJ. Retinitis punctata albescens. Br J Ophthalmol. 1921;5(1):18–9.
Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, Hamel CP. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2006;47(11):4719–24.
Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2009;50(5):2368–75.
Kajiwara K, Sandberg MA, Berson EL, Dryja TP. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993;3(3):208–12.
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001;59(6):424–9.
Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Invest Ophthalmol Vis Sci. 2008;49(7):3172–7.
Lauber H. Die Sogenannte retinitis punctata albescens. Klin Monatsbl Augenheilkd. 1910;48:133.
Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet. 1997;17(2):198–200.
Mooren A. Fünf lustren ophthalmologischer wirksamkeit werksamkeit. Wiesbaden: JF Bergmann; 1882. p. 216.
Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999;40(5):1000–4.
Nakamura M, Lin J, Ito Y, Miyake Y. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Am J Ophthalmol. 2005;139(6):1133–5.
Pearce WG, Gillan JG, Brosseau L. Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. Can J Ophthalmol. 1984;19(3):115–8.
Saari JC, Nawrot M, Kennedy BN, et al. Visual cycle impairment in cellular retinaldehyde binding protein (CRAlBP) knockout mice results in delayed dark adaptation. Neuron. 2001;29:739–48.
Samardzija M, Tanimoto N, Kostic C, Beck S, Oberhauser V, Joly S, Thiersch M, Fahl E, Arsenijevic Y, von Lintig J, Wenzel A, Seeliger MW, Grimm C. In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death. Hum Mol Genet. 2009;18(7):1266–75.
Scialfa A, Arnone G. Dominant retinitis pigmentosa and retinitis punctata albescens. Ann Ottalmol Clin Ocul. 1967;93(7):667–76.
Sénéchal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP. Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. Am J Ophthalmol. 2006;142(4):702–4.
Smith BF, Ripps H, Goodman G. Retinitis punctata albescens; a functional and diagnostic evaluation. AMA Arch Ophthalmol. 1959;61(1):93–101.
Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996;121(1):19–25.
Sparrow JR, Hicks D, Hamel CP. The retinal pigment epithelium in health and disease. Curr Mol Med. 2010;10(9):802–23.
Standish M. Retinitis Punctata Albescens. Trans Am Ophthalmol Soc. 1893;6:534–7.
Tamai A, Setogawa T, Kandori F. Electroretinographic studies on retinitis punctata albescens. Am J Ophthalmol. 1966;62(1):125–31.
Travkin AG, Basis VIu, Aladinskaia LV, Kunicheva GS. Hereditary association of tapeto-retinal dystrophy, retinitis punctata albescens, with spinal-cerebellar Friedreich’s ataxia. Vestn Oftalmol. 1975; (3):84–7.
Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52(1):292–302.
Winston A, Rando RR. Regulation of isomerohydrolase activity in the visual cycle. Biochemistry. 1998;37:2044–50.
Woodruff ML, Wang Z, Chung HY, Redmond TM, Fain GL, Lem J. Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Nat Genet. 2003;35(2):158–64.
Zhang T, Zhang N, Baehr W, Fu Y. Cone opsin determines the time course of cone photoreceptor degeneration in leber congenital amaurosis. Proc Natl Acad Sci U S A. 2011;108(21):8879–84.
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Hamel, C., Dessalces, E., Meunier, I. (2014). Retinitis Punctata Albescens. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_11
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