Table 1

 Effects of light exposure on animal models of retinal degeneration

Gene product (symbol)MutationSpeciesFindings*Human counterpart†
ADRP, autosomal dominant retinitis pigmentosa; ARRP, autosomal recessive retinitis pigmentosa; DR, dark rearing; LCA, Leber congenital amaurosis; NCL, neuronal ceroid lipofuscinosis; PPCA, pigmented paravenous chorioretinal atrophy; RP12, retinitis pigmentosa type 12; RPCEV, retinitis pigmentosa with Coats-like exudative vasculopathy; tg, transgenic; vLINCL, Turkish variant late infantile neuronal ceroid lipofuscinosis.
*“Protection” does not necessarily imply complete rescue. Light exposure protocols vary among studies, but “exacerbation by light” refers to accelerated degeneration in light brighter than that used for routine animal housing in a given study. Because sufficiently bright light can cause retinal damage in wild type animals,6 only cases in which exacerbation of degeneration significantly exceeds the damage produced in wild type controls by the same light regimen are included.
†Except where noted, the listed human diseases arise from mutations in genes orthologous to those mutated in the respective animal models. Phenotypes may not correspond precisely. Where more than one human disease is listed, these represent alternative phenotypes arising from mutations in the same gene.
‡These phenotypes are associated with mutations in the human gene TULP1 (Tubby-like protein 1), which is related to mouse Tub, but not orthologous.
§Ser334ter transgenic rats exhibit dominant retinal degeneration, but this mutation has not been reported in human RP.
Modified by light
Arrestin (Sag)Knockout8MouseProtection by DR9Oguchi disease,11 ARRP12
Exacerbation by light9,10
ATP/GTP binding protein 1 (Agtpbp1, Nna1)Putative regulatory mutation (pcd1J)13MouseExacerbation by light14Unknown
Crumbs homologue 1 (Crb1)Knockout15MouseExacerbation by light15LCA, RP12, RPCEV,16 PPCA17
Mertk (Mertk)Deletion18RatProtection by DR19–21ARRP24
Exacerbation by light21–23
Rds/peripherin (Rds)Insertion25MouseNo protection by DR26Exacerbation by light26Several forms of retinal dystrophy27
Rhodopsin (RHO)Thr4Arg (T4R)28DogExacerbation by light29ADRP30,31
Rhodopsin (Rho)Val20Gly, Pro23His, Pro27Leu (VPP)32Mouse (tg)Protection by DR33 Exacerbation by light34ADRP35
Rhodopsin (Rho)Pro23His (P23H)36,37Rat (tg)Protection by DR38 Exacerbation by light38–42ADRP35
Rhodopsin kinase (Grk1, Rhok)Knockout43MouseProtection by DR43 Exacerbation by light10,43Oguchi disease44
Rim protein (Abca4, Abcr)Knockout45MousePrevention of A2E accumulation by DR46Stargardt disease and other retinal dystrophies47
RPE65 (Rpe65)Knockout48MouseProtection by DR49 Resistance to light damage50LCA, early onset severe retinal dystrophy51
Solute carrier family 6, taurine transporter (Slc6a6, Taut)Knockout52MouseProtection by DR53Unknown
Tubby (Tub)Splice donor site mutation54,55MouseProtection by DR56ARRP,57,58 LCA59
UnknownNervous mutation (nr)60MouseNo protection by DR61 Exacerbation by light14Unknown
Not modified by light
Ceroid lipofuscinosis, neuronal 8 (Cln8)Frameshift62MouseNo protection by DR63NCL-8,62 vLINCL64
Microphthalmia associated transcription factor (Mitf)Asp222Asn (D222N)65MouseNo protection by DR66Waardenburg syndrome type II,67 Tietz syndrome68
Rhodopsin (Rho)Lys296Glu (K296E)69Mouse (tg)No protection by DR69ADRP70
Rhodopsin (Rho)Ser334ter71Rat (tg)No protection by DR38,72ADRP§
No exacerbation by light in most experiments38,41,73
Rhodopsin (Rho)Knockout74MouseResistance to light damage50ARRP75