PubMed

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI.

Ophthalmology. 2006 Jun;113(6):1002-9. Epub 2006 Apr 17.PMID: 16603246 [PubMed - indexed for MEDLINE]Related articles

Use of nitisinone in patients with alkaptonuria.

Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA.

Metabolism. 2005 Jun;54(6):719-28.PMID: 15931605 [PubMed - indexed for MEDLINE]Related articles

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.

Traffic. 2004 Sep;5(9):711-22.PMID: 15296495 [PubMed - indexed for MEDLINE]Related articles

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W.

Ophthalmology. 2004 Aug;111(8):1599-603.PMID: 15288994 [PubMed - indexed for MEDLINE]Related articles

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy.

Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF.

Arch Ophthalmol. 2004 Jul;122(7):982-4.PMID: 15249361 [PubMed - indexed for MEDLINE]Related articles

Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.

Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA.

Mayo Clin Proc. 2004 Mar;79(3):410-2.PMID: 15008615 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital iridocorneal malformation in Rieger syndrome.

Chan CC, Datiles M, Kaiser-Kupfer MI, Kupfer C.

Arch Ophthalmol. 2003 Apr;121(4):582-3. No abstract available. PMID: 12695262 [PubMed - indexed for MEDLINE]Related articles

A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.

Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, Thoene J, Del Monte M, Schneider JA, Granet DB, Kaiser-Kupfer MI.

Br J Ophthalmol. 2003 Jan;87(1):28-31.PMID: 12488257 [PubMed - indexed for MEDLINE]Related articlesFree article

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA.

Hum Mutat. 2002 Dec;20(6):482.PMID: 12442288 [PubMed - indexed for MEDLINE]Related articles

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Chan CC, Koch CA, Kaiser-Kupfer MI, Parry DM, Gutmann DH, Zhuang Z, Vortmeyer AO.

J Pathol. 2002 Sep;198(1):14-20.PMID: 12210058 [PubMed - indexed for MEDLINE]Related articlesFree article

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

Tsilou ET, Rubin BI, Caruso RC, Reed GF, Pikus A, Hejtmancik JF, Iwata F, Redman JB, Kaiser-Kupfer MI.

Acta Ophthalmol Scand. 2002 Apr;80(2):196-201.PMID: 11952489 [PubMed - indexed for MEDLINE]Related articles

Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.

Tsilou ET, Rubin BI, Reed GF, Iwata F, Gahl W, Kaiser-Kupfer MI.

Cornea. 2002 Mar;21(2):173-6.PMID: 11862089 [PubMed - indexed for MEDLINE]Related articles

Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

Kaiser-Kupfer MI, Caruso RC, Valle D.

Arch Ophthalmol. 2002 Feb;120(2):146-53.PMID: 11831916 [PubMed - indexed for MEDLINE]Related articles

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA.

Am J Hum Genet. 2001 Nov;69(5):1022-32. Epub 2001 Oct 3.PMID: 11590544 [PubMed - indexed for MEDLINE]Related articlesFree article

Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies.

Tamm SA, Whitcup SM, Gery I, Wiggert B, Nussenblatt RB, Kaiser-Kupfer MI.

Ocul Immunol Inflamm. 2001 Jun;9(2):75-84.PMID: 11449323 [PubMed - indexed for MEDLINE]Related articles

Ophthalmic manifestations of Allgrove syndrome: report of a case.

Tsilou E, Stratakis CA, Rubin BI, Hay BN, Patronas N, Kaiser-Kupfer MI.

Clin Dysmorphol. 2001 Jul;10(3):231-3.PMID: 11446421 [PubMed - indexed for MEDLINE]Related articles

Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement.

Caruso RC, Nussenblatt RB, Csaky KG, Valle D, Kaiser-Kupfer MI.

Arch Ophthalmol. 2001 May;119(5):667-9.PMID: 11346393 [PubMed - indexed for MEDLINE]Related articles

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. Review.PMID: 11001803 [PubMed - indexed for MEDLINE]Related articles

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF.

Hum Genet. 2000 May;106(5):531-7.PMID: 10914683 [PubMed - indexed for MEDLINE]Related articles

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.

Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI.

Ophthalmology. 2000 Apr;107(4):783-9.PMID: 10768343 [PubMed - indexed for MEDLINE]Related articles

Pilot trial of the safety, tolerability, and retinoid levels of N-(4-hydroxyphenyl) retinamide in combination with tamoxifen in patients at high risk for developing invasive breast cancer.

Conley B, O'Shaughnessy J, Prindiville S, Lawrence J, Chow C, Jones E, Merino MJ, Kaiser-Kupfer MI, Caruso RC, Podgor M, Goldspiel B, Venzon D, Danforth D, Wu S, Noone M, Goldstein J, Cowan KH, Zujewski J.

J Clin Oncol. 2000 Jan;18(2):275-83.PMID: 10637240 [PubMed - indexed for MEDLINE]Related articles

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA.

Pediatr Res. 2000 Jan;47(1):17-23.PMID: 10625078 [PubMed - indexed for MEDLINE]Related articles

A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.

Iwata F, Kuehl EM, Reed GF, McCain LM, Gahl WA, Kaiser-Kupfer MI.

Mol Genet Metab. 1998 Aug;64(4):237-42.PMID: 9758713 [PubMed - indexed for MEDLINE]Related articles

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA.

Mol Genet Metab. 1998 Jun;64(2):99-107.PMID: 9705234 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.

Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI.

Invest Ophthalmol Vis Sci. 1998 Aug;39(9):1736-9.PMID: 9699564 [PubMed - indexed for MEDLINE]Related articlesFree article

Effects of fenretinide (4-HPR) on dark adaptation.

Caruso RC, Zujewski J, Iwata F, Podgor MJ, Conley BA, Ayres LM, Kaiser-Kupfer MI.

Arch Ophthalmol. 1998 Jun;116(6):759-63.PMID: 9639444 [PubMed - indexed for MEDLINE]Related articles

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I.

N Engl J Med. 1998 Apr 30;338(18):1258-64.PMID: 9562579 [PubMed - indexed for MEDLINE]Related articlesFree article

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA.

Am J Hum Genet. 1997 Nov;61(5):1088-94.PMID: 9345105 [PubMed - indexed for MEDLINE]Related articlesFree article

Evaluation of visual function following neodymium:YAG laser posterior capsulotomy.

Magno BV, Datiles MB, Lasa MS, Fajardo MR, Caruso RC, Kaiser-Kupfer MI.

Ophthalmology. 1997 Aug;104(8):1287-93.PMID: 9261315 [PubMed - indexed for MEDLINE]Related articles

Association of visual field, cup-disc ratio, and magnetic resonance imaging of optic chiasm.

Iwata F, Patronas NJ, Caruso RC, Podgor MJ, Remaley NA, Kupfer C, Kaiser-Kupfer MI.

Arch Ophthalmol. 1997 Jun;115(6):729-32.PMID: 9194723 [PubMed - indexed for MEDLINE]Related articles

Association of thyroid disease with retinitis pigmentosa and gyrate atrophy.

Whitcup SM, Iwata F, Podgor MJ, Valle D, Sran PK, Kaiser-Kupfer MI.

Am J Ophthalmol. 1996 Dec;122(6):903-5.PMID: 8956655 [PubMed - indexed for MEDLINE]Related articles

Ocular manifestations of metabolic disorders.

Iwata F, Kaiser-Kupfer MI.

Curr Opin Ophthalmol. 1996 Dec;7(6):80-4. Review.PMID: 10166558 [PubMed - indexed for MEDLINE]Related articles

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF.

Am J Hum Genet. 1996 Sep;59(3):529-39.PMID: 8751853 [PubMed - indexed for MEDLINE]Related articlesFree article

Constructing retinal fundus photomontages. A new computer-based method.

Mahurkar AA, Vivino MA, Trus BL, Kuehl EM, Datiles MB 3rd, Kaiser-Kupfer MI.

Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1675-83.PMID: 8675411 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant zonular cataract with sutural opacities in a four-generation family.

Basti S, Hejtmancik JF, Padma T, Ayyagari R, Kaiser-Kupfer MI, Murty JS, Rao GN.

Am J Ophthalmol. 1996 Feb;121(2):162-8.PMID: 8623885 [PubMed - indexed for MEDLINE]Related articles

Benign cystinosis patients.

Gahl WA, McDowell G, Kaiser-Kupfer MI.

Cornea. 1996 Jan;15(1):101-2. No abstract available. PMID: 8907390 [PubMed - indexed for MEDLINE]Related articles

Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration.

Gentleman S, Kaiser-Kupfer MI, Sherins RJ, Caruso R, Robison WG Jr, Lloyd-Muhammad RA, Crawford MA, Pikus A, Chader GJ.

Hum Pathol. 1996 Jan;27(1):80-4.PMID: 8543316 [PubMed - indexed for MEDLINE]Related articles

Ocular manifestations of metabolic disorders.

Iwata F, Kaiser-Kupfer MI.

Curr Opin Ophthalmol. 1995 Dec;6(6):77-81. Review.PMID: 10160423 [PubMed - indexed for MEDLINE]Related articles

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA.

Am J Ophthalmol. 1994 Nov 15;118(5):569-82.PMID: 7977570 [PubMed - indexed for MEDLINE]Related articles

Ocular manifestations of metabolic disorders.

Iwata F, Kaiser-Kupfer MI.

Curr Opin Ophthalmol. 1994 Dec;5(6):79-83. Review.PMID: 10150832 [PubMed - indexed for MEDLINE]Related articles

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.

Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N.

Am J Med Genet. 1994 Oct 1;52(4):450-61.PMID: 7747758 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant congenital cataract. Interocular phenotypic variability.

Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI.

Ophthalmology. 1994 May;101(5):866-71.PMID: 8190472 [PubMed - indexed for MEDLINE]Related articles

Evoked potential analysis of visual pathways in human albinism.

Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI.

Ophthalmology. 1994 Feb;101(2):309-14.PMID: 8115151 [PubMed - indexed for MEDLINE]Related articles

Posterior subcapsular cataract in endogenous Cushing syndrome: an uncommon manifestation.

Bouzas EA, Mastorakos G, Friedman TC, Scott MH, Chrousos GP, Kaiser-Kupfer MI.

Invest Ophthalmol Vis Sci. 1993 Dec;34(13):3497-500.PMID: 8258505 [PubMed - indexed for MEDLINE]Related articlesFree article

Classic nephropathic cystinosis as an adult disease.

Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA.

JAMA. 1993 Nov 10;270(18):2200-4.PMID: 8411603 [PubMed - indexed for MEDLINE]Related articles

Central serous chorioretinopathy in endogenous hypercortisolism.

Bouzas EA, Scott MH, Mastorakos G, Chrousos GP, Kaiser-Kupfer MI.

Arch Ophthalmol. 1993 Sep;111(9):1229-33.PMID: 8363466 [PubMed - indexed for MEDLINE]Related articles

Lens opacities in neurofibromatosis 2: further significant correlations.

Bouzas EA, Freidlin V, Parry DM, Eldridge R, Kaiser-Kupfer MI.

Br J Ophthalmol. 1993 Jun;77(6):354-7.PMID: 8318482 [PubMed - indexed for MEDLINE]Related articlesFree article

Lisch nodules in Cushing's disease.

Bouzas EA, Mastorakos G, Chrousos GP, Kaiser-Kupfer MI.

Arch Ophthalmol. 1993 Apr;111(4):439-40. No abstract available. PMID: 8470969 [PubMed - indexed for MEDLINE]Related articles

Ophthalmologic examination in the diagnosis of Proteus syndrome.

Bouzas EA, Krasnewich D, Koutroumanidis M, Papadimitriou A, Marini JC, Kaiser-Kupfer MI.

Ophthalmology. 1993 Mar;100(3):334-8. Review.PMID: 8460002 [PubMed - indexed for MEDLINE]Related articles

Visual impairment in patients with neurofibromatosis 2.

Bouzas EA, Parry DM, Eldridge R, Kaiser-Kupfer MI.

Neurology. 1993 Mar;43(3 Pt 1):622-3. No abstract available. PMID: 8451014 [PubMed - indexed for MEDLINE]Related articles