Diagnosis and counselling of retinal dystrophies with childhood or adult onset;Diagnostik und beratung bei netzhautdystrophien im kindes- und erwachsenenalter

Medizinische Genetik

Volumn 15, Issue 2, 2003, Pages 180-185

  Lorenz, Birgit ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

Genetic counselling; Genotype; Genotype phenotype correlation; Phenotype; Prognosis

Indexed keywords

ADULT; ADULTHOOD; CHILD; CHILDHOOD; CORRELATION ANALYSIS; COUNSELING; DATA BASE; FAMILY; GENETIC DISORDER; GENOTYPE; HUMAN; ONSET AGE; PHENOTYPE; RETINA DYSTROPHY; SHORT SURVEY;

EID: 0038040103     PISSN: 09365931     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Short Survey

References (11)

1. Bader I, Brandau O, Achatz H et al. (2003) X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci 44: 1458-1463.
2. Birch DG, Anderson JL, Fish GE (1999) Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 106:258-268.
3. Caruso RC, Nussenblatt RB, Csaky KG, Valle D, Kaiser-Kupfer MI (2001) Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. Arch Ophthalmol 119:667-669.
4. Endres W, Stolla A, Shin YS, Röschinger W, Lorenz B, Zrenner E. (2002) Atrophia Gyrata mit Hyperomithinämie: Der Effekt der diätischen Therapie. Monatsschr Kinderheilkd 136:549
5. Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B. (2002) Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol 240:628-638.
6. Gloesmann M, Hermann B, Schubert C, Sattmann H, Ahnelt PK, Drexler W. (2003) Histologic correlation of pig retina radial stratification with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci 44:1696-1703.
7. Lorenz B, Gyurus P, Preising M, et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 2000;41:2735-2742.
8. Lorenz B, Gampe E. Analyse von 180 Patienten mit sensorischem Defektnystagmus (SDN) und kongenitalem idiopathischem Nystagmus (CIN). Klin Monatsbl Augenheilkd 2001a;218:3-12.
9. Lorenz B, Preising MN, Kretschmann U. (2001b) Molekulare und klinische Ophthalmogenetik. DÄB 98:A3445-A3449
10. Thompson DA, McHenry CL, Li Y et al (2002) Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively. Am J Hum Genet 70: 224-229
11. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM (1993) Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/ RDS gene. Arch Ophthalmol 111: 1531-1542.