Retinitis Pigmentosa; Klinik Bulgular, Görüntüleme Bulguları ve Tanı

Retinitis pigmentosa (RP) rod ve kon fotoreseptörlerinin dejenerasyonu ile karakterize heterojen herediter bir retina distrofisi grubudur. Dünya genelinde prevalansı 1/4000 olarak bilinmektedir. Retinitis pigmentosa hastalarında en erken semptom genellikle gece körlüğüdür ve bunu görme alanında konsantrik daralma takip eder. Daha geç dönemde kon hücre disfonksiyonuna bağlı merkezi görme kaybı ortaya çıkar. Elektroretinografi ile değerlendirilen fotoreseptör cevapları azalmış veya kayıt edilemez şeklindedir. Optik koherens tomografide dış retina segmentlerinde progresif kayıp izlenirken, fundus otoflöresans görüntülemede karakteristik otoflöresans değişiklikler dikkat çeker. Seksen üzerinde farklı genlerdeki mutasyonlar sendromik olmayan RP ile ilişkili bulunmuştur. Retinitis pigmentosanın heterojen bir hastalık grubu olması klinik bulgularının tanımlanmasını zorlaştırmaktadır. Bu derlemenin amacı RP’nin klinik özellikleri ve tanısı ile ilgili genel bir bakış sağlamaktır.

Retinitis Pigmentosa: Clinical Features, Imaging and Diagnosis

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive degeneration of rod and cone photoreceptors. The worldwide prevalence of the disease is 1/4000. The earliest symptom in RP is most commonly night blindness, followed by concentric visual field loss. Central vision loss occurs later in life due to cone dysfunction. Photoreceptor responses measured with an electroretinogram are reduced or undetectable. Optical coherence tomography shows a progressive loss of outer retinal layers and fundus autofluorescence imaging reveals alteration autofluorescence in a characteristic pattern. Mutations in more than 80 different genes have been associated with non-syndromic RP. The heterogeneity of RP makes it challenging to describe the clinical findings. The objective of this review is to provide an overview of the clinical characteristics and diagnosis of RP.

Kaynakça

Pagon RA. Retinitis pigmentosa. Surv Ophthalmol 1988;33(3):137–177.

Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retina Eye Res. 2018;66:157–186.

Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.

Bittner AK, Diener-West M, Dagnelie G. Characteristics and possible visual consequences of photopsias as vision measures are reduced in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2011:52(9):6370–6376.

O’Hare F, Bentley SA, Wu Z, Guymer RH, Luu CD, Ayton LN. Charles Bonnet syndrome in advanced retinitis pigmentosa. Ophthalmology. 2015;122(9):1951–1953.

Novak-Lauŝ K, Kukulj S, Zorić-Geber M, Bastaić O. Primary tapetoretinal dystrophies as the cause of blindness and impaired vision in the republic of Croatia. Acta Clin. 2002;41(1):23–27.

Li ZY, Possin DE, Milam AH. Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology. 1995;102(5):805–816.

Hwang YH, Kim SW, Kim YY, Na JH , Kim HK, Sohn YH. Optic nerve head, retinal nerve fiber layer, and macular thickness measurements in young patients with retinitis pigmentosa. Curr Eye Res 2012:37(10);914–920.

Strong S, Liew G, Michaelides M. Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. Br J Ophthalmol. 2017;101(1):31–37.

Fujiwara K, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Yoshida N, et al. Association between aqueous flare and epiretinal membrane in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2016;57(10):4282–4286.

Kan E, Yilmaz T, Aydemir O, Güler M, Kurt J. Coats-like retinitis pigmentosa: Reports of three cases. Clin Ophthalmol. 2007;1(2):193-8.

Talib M, van Schooneveld MJ, van Genderen MM, et al. Genotypic and phenotypic characteristics of CRB1-associated retinal dystrophies: a long term follow-up study. Ophthalmology. 2017;124(6):884–895.

Sayman Muslubas I, Karacorlu M, Arf S, Hocaoglu M, Ersoz MG. Features of the macula and central visual field and fixation pattern in patients with retinitis pigmentosa. Retina. 2018;38(2):424-431.

McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, et al. ISCEV Standard for full-field clinical electroretinography (2015update). Doc Ophthalmol. 2015:130(1):1–12.

Messias K, Jägle H, Saran R, Ruppert AD, Siqueira R, Jorge R, et al. Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes. Doc Ophthalmol. 2013;127(2):123–129.

Liu G, Du Q, Keyal K, Wang F. Morphologic characteristics and clinical significance of the macular-sparing area in patients with retinitis pigmentosa as revealed by multicolor imaging. Exp Ther. 2017;14(6):5387–5394.

Liu G, Liu X, Li H, Du Q, Wang F. Optical coherence tomographic analysis of retina in retinitis pigmentosa patients. Ophthalmic Res. 2016;56(3):111–122.

Hood DC, Lazow MA, Locke KG, Greenstein VC, Birch DG. The transition zone between healthy and diseased retina in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2011;52(1):101–108.

Goldberg NR, Greenberg JP, Laud K, Tsang S, Freund KB. Outer retinal tubulation in degenerative retinal disorders. Retina. 2013;33(9):1871–1876.

Kuroda M, Hirami Y, Hata M, Mandai M, Takahashi M, Kurimoto Y. Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa. Clin Ophthalmol. 2014;8:435–440.

Tamaki M, Matsuo T. Optical coherence tomographic parameters as objective signs for visual acuity in patients with retinitis pigmentosa, future candidates for retinal prostheses. J Artif Organs. 2011;14(2):140–150.

Liu G, Liu X, Li H, Du Q, Wang F. Optical coherence tomographic analysis of retina in retinitis pigmentosa patients. Ophthalmic Res. 2016;56(3):111–122.

Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, et al. Prevalence and spatial distribution of cystoid spaces in retinitis pigmentosa: investigation with spectral domain optical coherence tomography. Retina. 2014;34(5):981–988.

Sujirakul T, Davis R, Erol D, Zhang L, Schillizzi G, Royo-Dujardin L, et al. Bilateral concordance of the fundus hyperautofluorescent ring in typical retinitis pigmentosa patients. Ophthalmic Genet. 2015;36(2):113–122.

Greenstein VC, Duncker T, Holopigian K, Carr RE, Greenberg JP, Tsang SH, et al. Structural and functional changes associated with normal and abnormal fundus autofluorescence in patients with retinitis pigmentosa. Retina. 2012;32(2):349–357.

Schuerch K, Woods RL, Lee W, Duncker T, Delori FC, Allikmets R, et al. Quantifying fundus autofluorescence in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2017;58(3):1843–1855.

Robson AG, Lenassi E, Saihan Z, Luong VA, Fitzke FW, Holder GE, et al. Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4 to 8 years follow-up. Invest Ophthalmol Vis Sci. 2012;53(10):6187–6195.

Duncker T, Tabacaru MR, Lee W, Tsang SH, Sparrow JR, Greenstein VC. Comparison of near-infrared and short-wave length autofluorescence in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54(1):585–591.

Oishi A, Ogino K, Makiyama Y, Nakagawa S, Kurimoto M, Yoshimura N. Wide-field fundus autofluorescence imaging of retinitis pigmentosa. Ophthalmology. 2013;120(9):1827–1834.

Robson AG, Tufail A, Fitzke F, Bird AC, Moore AT, Holder GE, et al. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa. Retina. 2011;31(8):1670–1679.

Kaynak Göster