Skip to main content
Erschienen in: Documenta Ophthalmologica 3/2016

04.04.2016 | Clinical Case Report

Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

verfasst von: Mathieu Gauvin, Hadi Chakor, Robert K. Koenekoop, John M. Little, Jean-Marc Lina, Pierre Lachapelle

Erschienen in: Documenta Ophthalmologica | Ausgabe 3/2016

Einloggen, um Zugang zu erhalten

Abstract

Purpose

A patient initially presented with constricted visual field, attenuated retinal vasculature, pigmentary clumping and reduced ERG in OS only, suggestive of unilateral retinitis pigmentosa (RP). This patient was subsequently seen on eight occasions (over three decades), and, with time, the initially normal eye (OD) gradually showed signs of RP-like degeneration. The purpose of this study was to evaluate which clinical modality (visual field, funduscopy or electroretinography) could have first predicted this fate.

Methods

At each time points, data obtained from our patient were compared to normative data using Z tests.

Results

At initial visit, all tests were significantly (p < 0.05) altered in OS and normal in OD. Visual field and retinal vessel diameter in OD reduced gradually to reach statistical significance at the 5th visit and 6th visit (21 and 22 years after the first examination, respectively). In OD, the amplitude of the scotopic and photopic ERGs reduced gradually and was significantly smaller than normal at the 2nd visit (after 11 years) and 3rd visit (after 18 years), respectively. When the photopic ERG was analyzed using the discrete wavelet transform (DWT), we were able to detect a significant change at the 2nd visit (after 11 years) instead of the 3rd visit (18 years).

Conclusions

Our study allowed us to witness the earliest manifestation of an RP disease process. The ERG was the first test to detect significant RP changes. A significantly earlier detection of ERG anomalies was obtained when the DWT was used, demonstrating its advantage for early detection of ERG changes.
Literatur
1.
Zurück zum Zitat Madreperla SA, Palmer RW, Massof RW, Finkelstein D (1990) Visual acuity loss in retinitis pigmentosa. Relationship to visual field loss. Arch Ophthalmol 108:358–361CrossRefPubMed Madreperla SA, Palmer RW, Massof RW, Finkelstein D (1990) Visual acuity loss in retinitis pigmentosa. Relationship to visual field loss. Arch Ophthalmol 108:358–361CrossRefPubMed
2.
Zurück zum Zitat Marmor MF (1991) Visual acuity and field loss in retinitis pigmentosa. Arch Ophthalmol 109:13–14CrossRefPubMed Marmor MF (1991) Visual acuity and field loss in retinitis pigmentosa. Arch Ophthalmol 109:13–14CrossRefPubMed
3.
Zurück zum Zitat Grover S, Fishman GA, Anderson RJ, Alexander KR, Derlacki DJ (1997) Rate of visual field loss in retinitis pigmentosa. Ophthalmology 104:460–465CrossRefPubMed Grover S, Fishman GA, Anderson RJ, Alexander KR, Derlacki DJ (1997) Rate of visual field loss in retinitis pigmentosa. Ophthalmology 104:460–465CrossRefPubMed
4.
Zurück zum Zitat Akyol N, Kukner S, Celiker U, Koyu H, Luleci C (1995) Decreased retinal blood flow in retinitis pigmentosa. Can J Ophthalmol 30:28–32PubMed Akyol N, Kukner S, Celiker U, Koyu H, Luleci C (1995) Decreased retinal blood flow in retinitis pigmentosa. Can J Ophthalmol 30:28–32PubMed
5.
Zurück zum Zitat Li ZY, Possin DE, Milam AH (1995) Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology 102:805–816CrossRefPubMed Li ZY, Possin DE, Milam AH (1995) Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology 102:805–816CrossRefPubMed
6.
Zurück zum Zitat Godel V, Regenbogen L (1976) Unilateral retinitis pigmentosa and pit of optic disc. Arch Ophthalmol 94:1417–1418CrossRefPubMed Godel V, Regenbogen L (1976) Unilateral retinitis pigmentosa and pit of optic disc. Arch Ophthalmol 94:1417–1418CrossRefPubMed
7.
Zurück zum Zitat Sandberg MA, Weigel-DiFranco C, Rosner B, Berson EL (1996) The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. Invest Ophthalmol Vis Sci 37:1693–1698PubMed Sandberg MA, Weigel-DiFranco C, Rosner B, Berson EL (1996) The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. Invest Ophthalmol Vis Sci 37:1693–1698PubMed
8.
Zurück zum Zitat Birch DG, Anderson JL, Fish GE (1999) Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 106:258–268CrossRefPubMed Birch DG, Anderson JL, Fish GE (1999) Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 106:258–268CrossRefPubMed
9.
Zurück zum Zitat Holopigian K, Greenstein V, Seiple W, Carr RE (1996) Rates of change differ among measures of visual function in patients with retinitis pigmentosa. Ophthalmology 103:398–405CrossRefPubMed Holopigian K, Greenstein V, Seiple W, Carr RE (1996) Rates of change differ among measures of visual function in patients with retinitis pigmentosa. Ophthalmology 103:398–405CrossRefPubMed
10.
11.
Zurück zum Zitat Holladay JT (1997) Proper method for calculating average visual acuity. J Refract Surg 13:388–391PubMed Holladay JT (1997) Proper method for calculating average visual acuity. J Refract Surg 13:388–391PubMed
12.
Zurück zum Zitat Lachapelle P, Quigley MG, Polomeno RC, Little JM (1988) Abnormal dark-adapted electroretinogram in Best’s vitelliform macular degeneration. Can J Ophthalmol 23:279–284PubMed Lachapelle P, Quigley MG, Polomeno RC, Little JM (1988) Abnormal dark-adapted electroretinogram in Best’s vitelliform macular degeneration. Can J Ophthalmol 23:279–284PubMed
13.
Zurück zum Zitat Lachapelle P, Little JM, Roy MS (1989) The electroretinogram in Stargardt’s disease and fundus flavimaculatus. Doc Ophthalmol 73:395–404CrossRefPubMed Lachapelle P, Little JM, Roy MS (1989) The electroretinogram in Stargardt’s disease and fundus flavimaculatus. Doc Ophthalmol 73:395–404CrossRefPubMed
14.
Zurück zum Zitat Hebert M, Lachapelle P, Dumont M (1995) Reproducibility of electroretinograms recorded with DTL electrodes. Doc Ophthalmol 91:333–342CrossRefPubMed Hebert M, Lachapelle P, Dumont M (1995) Reproducibility of electroretinograms recorded with DTL electrodes. Doc Ophthalmol 91:333–342CrossRefPubMed
15.
Zurück zum Zitat Lachapelle P, Benoit J, Little JM, Lachapelle B (1993) Recording the oscillatory potentials of the electroretinogram with the DTL electrode. Doc Ophthalmol 83:119–130CrossRefPubMed Lachapelle P, Benoit J, Little JM, Lachapelle B (1993) Recording the oscillatory potentials of the electroretinogram with the DTL electrode. Doc Ophthalmol 83:119–130CrossRefPubMed
16.
Zurück zum Zitat Mallat SG (2009) A wavelet tour of signal processing the sparse way, 3rd edn. Academic Press, Houston Mallat SG (2009) A wavelet tour of signal processing the sparse way, 3rd edn. Academic Press, Houston
17.
Zurück zum Zitat Buckheit J, Chen S, Donoho D, Johnstone I, Scargle J (1995) About WaveLab. Department of Statistics, Stanford University, Palo Alto Buckheit J, Chen S, Donoho D, Johnstone I, Scargle J (1995) About WaveLab. Department of Statistics, Stanford University, Palo Alto
18.
Zurück zum Zitat Penkala K (2010) Continuous wavelet transformation of pattern electroretinogram (PERG)—a tool improving the test accuracy. In: Bamidis P, Pallikarakis N (eds) XII Mediterranean conference on medical and biological engineering and computing 2010. Springer, Berlin, pp 196–199CrossRef Penkala K (2010) Continuous wavelet transformation of pattern electroretinogram (PERG)—a tool improving the test accuracy. In: Bamidis P, Pallikarakis N (eds) XII Mediterranean conference on medical and biological engineering and computing 2010. Springer, Berlin, pp 196–199CrossRef
19.
Zurück zum Zitat Barraco R, Persano Adorno D, Brai M, Tranchina L (2013) A comparison among different techniques for human ERG signals processing and classification. Phys Med 30:86–95CrossRefPubMed Barraco R, Persano Adorno D, Brai M, Tranchina L (2013) A comparison among different techniques for human ERG signals processing and classification. Phys Med 30:86–95CrossRefPubMed
20.
Zurück zum Zitat Rogala T, Brykalski A (2005) Wavelet feature space in computer-aided electroretinogram evaluation. Pattern Anal Appl 8:238–246CrossRef Rogala T, Brykalski A (2005) Wavelet feature space in computer-aided electroretinogram evaluation. Pattern Anal Appl 8:238–246CrossRef
21.
Zurück zum Zitat Gauvin M, Lina JM, Lachapelle P (2014) Advance in ERG analysis: from peak time and amplitude to frequency, power, and energy. Biomed Res Int 246096:1–11CrossRef Gauvin M, Lina JM, Lachapelle P (2014) Advance in ERG analysis: from peak time and amplitude to frequency, power, and energy. Biomed Res Int 246096:1–11CrossRef
22.
Zurück zum Zitat Gauvin M, Little JM, Lina JM, Lachapelle P (2015) Functional decomposition of the human ERG based on the discrete wavelet transform. J Vis 15(16):1–22CrossRef Gauvin M, Little JM, Lina JM, Lachapelle P (2015) Functional decomposition of the human ERG based on the discrete wavelet transform. J Vis 15(16):1–22CrossRef
23.
Zurück zum Zitat Sprinthall RC (2012) Basic statistical analysis, 9th edn. Pearson Allyn & Bacon, Boston Sprinthall RC (2012) Basic statistical analysis, 9th edn. Pearson Allyn & Bacon, Boston
24.
Zurück zum Zitat Weller JM, Michelson G, Juenemann AG (2014) Unilateral retinitis pigmentosa: 30 years follow-up. BMJ Case Rep 2014:1–8 Weller JM, Michelson G, Juenemann AG (2014) Unilateral retinitis pigmentosa: 30 years follow-up. BMJ Case Rep 2014:1–8
25.
26.
Zurück zum Zitat Berson EL, Gouras P, Hoff M (1969) Temporal aspects of the electroretinogram. Arch Ophthalmol 81:207–214CrossRefPubMed Berson EL, Gouras P, Hoff M (1969) Temporal aspects of the electroretinogram. Arch Ophthalmol 81:207–214CrossRefPubMed
27.
Zurück zum Zitat Marsiglia M, Duncker T, Peiretti E, Brodie SE, Tsang SH (2012) Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms. Eur J Ophthalmol 22:654–660CrossRefPubMedPubMedCentral Marsiglia M, Duncker T, Peiretti E, Brodie SE, Tsang SH (2012) Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms. Eur J Ophthalmol 22:654–660CrossRefPubMedPubMedCentral
28.
Zurück zum Zitat Cestari AT, Sallum JM, De Conti ML, Tagliari TI, Barboza MN (2012) Unilateral retinitis pigmentosa secondary to eye injury: case report. Arq Bras Oftalmol 75:210–212CrossRefPubMed Cestari AT, Sallum JM, De Conti ML, Tagliari TI, Barboza MN (2012) Unilateral retinitis pigmentosa secondary to eye injury: case report. Arq Bras Oftalmol 75:210–212CrossRefPubMed
29.
Zurück zum Zitat Potsidis E, Berson EL, Sandberg MA (2011) Disease course of patients with unilateral pigmentary retinopathy. Invest Ophthalmol Vis Sci 52:9244–9249CrossRefPubMedPubMedCentral Potsidis E, Berson EL, Sandberg MA (2011) Disease course of patients with unilateral pigmentary retinopathy. Invest Ophthalmol Vis Sci 52:9244–9249CrossRefPubMedPubMedCentral
30.
Zurück zum Zitat Mukhopadhyay R, Holder GE, Moore AT, Webster AR (2011) Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. Arch Ophthalmol 129:954–956CrossRefPubMed Mukhopadhyay R, Holder GE, Moore AT, Webster AR (2011) Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. Arch Ophthalmol 129:954–956CrossRefPubMed
31.
33.
Zurück zum Zitat Chen H, Wu D, Huang S, Jiang F (2006) Unilateral retinitis pigmentosa with amblyopia in the fellow eye. Graefes Arch Clin Exp Ophthalmol 244:1701–1704CrossRefPubMed Chen H, Wu D, Huang S, Jiang F (2006) Unilateral retinitis pigmentosa with amblyopia in the fellow eye. Graefes Arch Clin Exp Ophthalmol 244:1701–1704CrossRefPubMed
34.
36.
Zurück zum Zitat Paolo de Felice G, Bottoni F, Orzalesi N (1988) Unilateral retinitis pigmentosa associated with exfoliation syndrome. Int Ophthalmol 11:219–226CrossRefPubMed Paolo de Felice G, Bottoni F, Orzalesi N (1988) Unilateral retinitis pigmentosa associated with exfoliation syndrome. Int Ophthalmol 11:219–226CrossRefPubMed
37.
Zurück zum Zitat Grisanti S, Diestelhorst M, Lebek J, Walter P, Heimann K (1998) Unilateral pigmentary degeneration of the retina associated with heterochromia iridis. Graefes Arch Clin Exp Ophthalmol 236:940–944CrossRefPubMed Grisanti S, Diestelhorst M, Lebek J, Walter P, Heimann K (1998) Unilateral pigmentary degeneration of the retina associated with heterochromia iridis. Graefes Arch Clin Exp Ophthalmol 236:940–944CrossRefPubMed
38.
Zurück zum Zitat Fornaro P, Calabria G, Corallo G, Picotti GB (2002) Pathogenesis of degenerative retinopathies induced by thioridazine and other antipsychotics: a dopamine hypothesis. Doc Ophthalmol 105:41–49CrossRefPubMed Fornaro P, Calabria G, Corallo G, Picotti GB (2002) Pathogenesis of degenerative retinopathies induced by thioridazine and other antipsychotics: a dopamine hypothesis. Doc Ophthalmol 105:41–49CrossRefPubMed
39.
Zurück zum Zitat Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O et al (2003) Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 136:678–687CrossRefPubMed Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O et al (2003) Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 136:678–687CrossRefPubMed
40.
Zurück zum Zitat Daiger SP, Sullivan LS, Bowne SJ (2013) Genes and mutations causing retinitis pigmentosa. Clin Genet 84:132–141CrossRefPubMed Daiger SP, Sullivan LS, Bowne SJ (2013) Genes and mutations causing retinitis pigmentosa. Clin Genet 84:132–141CrossRefPubMed
41.
Zurück zum Zitat Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH et al (2014) A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci 55:7147–7158CrossRefPubMedPubMedCentral Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH et al (2014) A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci 55:7147–7158CrossRefPubMedPubMedCentral
42.
Zurück zum Zitat Berson EL, Sandberg MA, Rosner B, Birch DG, Hanson AH (1985) Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99:240–251CrossRefPubMed Berson EL, Sandberg MA, Rosner B, Birch DG, Hanson AH (1985) Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99:240–251CrossRefPubMed
43.
Zurück zum Zitat Akeo K, Saga M, Hiida Y, Oguchi Y, Okisaka S (1998) Progression of visual field loss in patients with retinitis pigmentosa of sporadic and autosomal recessive types. Ophthalmic Res 30:11–22CrossRefPubMed Akeo K, Saga M, Hiida Y, Oguchi Y, Okisaka S (1998) Progression of visual field loss in patients with retinitis pigmentosa of sporadic and autosomal recessive types. Ophthalmic Res 30:11–22CrossRefPubMed
44.
Zurück zum Zitat Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR et al (2000) A one-hit model of cell death in inherited neuronal degenerations. Nature 406:195–199CrossRefPubMed Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR et al (2000) A one-hit model of cell death in inherited neuronal degenerations. Nature 406:195–199CrossRefPubMed
45.
Zurück zum Zitat Garon ML, Dorfman AL, Racine J, Koenekoop RK, Little JM et al (2014) Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. Doc Ophthalmol 129:9–16CrossRefPubMed Garon ML, Dorfman AL, Racine J, Koenekoop RK, Little JM et al (2014) Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. Doc Ophthalmol 129:9–16CrossRefPubMed
Metadaten
Titel
Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up
verfasst von
Mathieu Gauvin
Hadi Chakor
Robert K. Koenekoop
John M. Little
Jean-Marc Lina
Pierre Lachapelle
Publikationsdatum
04.04.2016
Verlag
Springer Berlin Heidelberg
Erschienen in
Documenta Ophthalmologica / Ausgabe 3/2016
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-016-9537-y

Weitere Artikel der Ausgabe 3/2016

Documenta Ophthalmologica 3/2016 Zur Ausgabe

Neu im Fachgebiet Augenheilkunde

Update Augenheilkunde

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