Search

Your search keyword '"Albinism, Ocular diagnosis"' showing total 104 results

Search Constraints

Start Over You searched for: Descriptor "Albinism, Ocular diagnosis" Remove constraint Descriptor: "Albinism, Ocular diagnosis"
104 results on '"Albinism, Ocular diagnosis"'

Search Results

1. Clinical and mutational characteristics of oculocutaneous albinism type 7.

2. Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers.

3. Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.

4. GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.

7. Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

8. Foveal hypoplasia in parents of patients with albinism.

9. Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation.

10. Choroidal and retinal thickness variations in ocular albinism.

11. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

12. Strikingly High Myopia in Aland Island Eye Disease.

13. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.

15. Pseudo-Gaze Deviation Resulting From Positive Angle Kappa and Esotropia.

16. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

17. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

18. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

19. Retinal Vasoproliferative Tumor in Ocular Albinism.

20. [Nystagmus secondary to albinism with ocular involvement in a female: A diagnostic challenge].

21. Congenital Grouped Albinotic Spots: New Insights on the Pathophysiology Based on Multimodal Retinal Imaging.

22. Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

23. Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.

24. The Detection Of Misrouting In Albinism: Evaluation of Different VEP Procedures in a Heterogeneous Cohort.

25. Don't Miss This! Red Flags in the Pediatric Eye Examination: Subnormal Acuity.

26. Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report.

27. Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

28. Ocular albinism with bilateral ocular coloboma - A rare association.

29. Hypopigmented fundus in a young male.

30. Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots.

31. Mud-splattered fundus.

32. Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

33. [Oculocutaneous and ocular albinism].

34. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

35. GPR143 mutations in Chinese patients with ocular albinism type 1.

36. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

37. The clinical evaluation of infantile nystagmus: What to do first and why.

38. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

39. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

40. A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

41. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

42. Illusions of Certainty.

43. Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

44. Clinical Insights Into Foveal Morphology in Albinism.

46. Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview.

47. Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

48. Concentric macular rings sign in patients with foveal hypoplasia.

49. 'Congenital' nystagmus may hide various ophthalmic diagnoses.

50. Ophthalmologic features of Vici syndrome.

Catalog

Books, media, physical & digital resources