ABSTRACT
PURPOSE: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS: This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and non-parametric statistical analyses were carried out. RESULTS: Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation. Best corrected visual acuity (BCVA) was poorer in patients with type 1 HPS than in patients with type 3 HPS (p < 0.001), esotropia was more common among type 1 HPS patients (p < 0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p < 0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p < 0.001). CONCLUSIONS: Patients with type 1 HPS had poorer BCVA, increased incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported.
Subject(s)
Hermanski-Pudlak Syndrome/diagnosis , Iris Diseases/diagnosis , Retinal Diseases/diagnosis , Strabismus/diagnosis , Vision Disorders/diagnosis , Adolescent , Adult , Aged , Carrier Proteins/genetics , Child , DNA Mutational Analysis , Exons , Eye Color , Female , Hermanski-Pudlak Syndrome/genetics , Humans , Intracellular Signaling Peptides and Proteins , Iris Diseases/genetics , Male , Membrane Proteins/genetics , Membrane Transport Proteins/genetics , Middle Aged , Mutation , Polymerase Chain Reaction , Retinal Diseases/genetics , Retrospective Studies , Strabismus/genetics , Tyrosine/genetics , Vision Disorders/genetics , Visual Acuity , Young AdultABSTRACT
This report describes two cases of severe, bilateral ischemic retinal vasculitis following cataract surgeries at different surgical centers. In both cases, the patient underwent bilateral cataract surgeries, performed 1 week apart for each eye. In the perioperative period following the second of the two surgeries, both patients developed severe, bilateral intraocular inflammation and profound vision loss. The underlying cause of this adverse response remains unknown. The authors suggest that the severe inflammatory reaction could be related to an intraoperative intracameral vancomycin injection.
Subject(s)
Cataract Extraction/adverse effects , Ischemia/etiology , Postoperative Complications , Retinal Vasculitis/etiology , Retinal Vessels , Aged , Blindness/etiology , Female , Humans , Male , Perioperative PeriodABSTRACT
Breast cancer is the second most common type of cancer worldwide and metastasis occurs in approximately 10% of the patents. A 69-year-old woman with past medical history of breast cancer came to her outpatient ophthalmologic clinic for follow-up evaluation of glaucoma. Upon evaluation the patient complained of ataxia, tinnitus, and headaches. Her visual field analysis showed a left homonymous hemianopsia. An MRI was ordered showing an intra-parenchymal lesion in the right cerebellar hemisphere. The visual signs were not compatible with the lesion on the cerebellum, but the MRI evidenced no other lesions in the optic tract. Our case report reminds physicians the importance and sensitivity of radiologic studies, the evaluation of neurologic symptoms in patients with history of breast cancer making co-management of these patients of utmost importance.
Subject(s)
Brain Neoplasms/secondary , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/secondary , Aged , Brain Neoplasms/complications , Carcinoma, Ductal, Breast/complications , Eye Diseases/etiology , Female , Humans , Medical Oncology , Neurology , OphthalmologyABSTRACT
INTRODUCTION: Previous studies have reported that patients with the CHARGE association have congenital anomalies including: Coloboma; heart defects; choanal atresia, retarded growth and development; genital hypoplasia; and ear anomalies. Ocular findings in patients with the association include: poor visual acuity; anisometropia; myopic astigmatism; strabismus; microcornea; cataracts; staphyloma; and reduced stereopsis. METHODS: We conducted a non-concurrent prospective study of 13 patients with coloboma from Puerto Rico. RESULTS: Seven patients out of the 13 patients (53.8%) had the CHARGE association. Age ranged from 10 to 84 (mean = 38 years). Ocular findings in all the patients with coloboma include: nystagmus; strabismus; poor visual acuity; refractive errors; microcornea; cataracts; glaucoma; and dry eyes. Patients in our study had systemic findings such as: heart defects; ear anomalies; and endocrine problems. CONCLUSIONS: To our knowledge this is the first case series of patients with Coloboma and the CHARGE association reported in Puerto Rico and the Caribbean basin.
Subject(s)
Abnormalities, Multiple/epidemiology , Coloboma/epidemiology , Adult , Aged , Aged, 80 and over , Child , Choanal Atresia/epidemiology , Cornea/abnormalities , Ear/abnormalities , Ectopia Lentis/etiology , Female , Glaucoma/etiology , Heart Defects, Congenital/epidemiology , Humans , Hydrocortisone/deficiency , Hypothyroidism/etiology , Male , Middle Aged , Prospective Studies , Puerto Rico/epidemiology , Syndrome , Xerophthalmia/etiologyABSTRACT
Smith-Magenis syndrome (SMS) is characterized by deletions in the short arm of chromosome 17. Systemic findings in patients with the syndrome include: dysmorphic facies and skeletal deformities. Ophthalmic findings in patients with the SMS include: strabismus, refractive errors, microcornea, iris anomalies, microphthalmos, and coloboma. A 14-year-old boy with cytogenetic studies confirming the SMS underwent a comprehensive ophthalmologic examination. The patient has a history of strabismus surgery. Clinical findings in this patient include: developmental delay, facial dysmorphism, enamel hypoplasia, short broad hands, clinodactyly, and scoliosis. Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis. To our knowledge this is the first reported case of SMS in the Caribbean basin and the first case that report ectopia lentis in SMS. There is a possibility that lens subluxation in our patient is due to self inflicted trauma.
