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1.
J AAPOS ; 23(1): 32.e1-32.e4, 2019 02.
Article in English | MEDLINE | ID: mdl-30611936

ABSTRACT

BACKGROUND: Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI. The purpose of this study was to assess the uniformity of diagnostic criteria in a well-defined practice environment. METHODS: The medical records of individuals diagnosed with CI between June 2007 and November 2014 who were patients of 6 fellowship-trained strabismologists in private practices and at Wills Eye Hospital clinics were reviewed retrospectively. Exclusion criteria included any previous treatments for CI, prior strabismus surgery, or other causes for strabismus, including cranial nerve palsies. The following data were collected: age, sex, race, age at diagnosis, past medical and family history, relevant symptoms, visual acuity, near point of convergence (NPC), strabismus measurements, and fusional amplitudes at distance with base-out and base-in prisms. RESULTS: A total of 387 patients fit our inclusion criteria and were analyzed in our study. There was no uniformity across clinicians in the clinical evaluation and diagnosis of patients with CI. The amplitude of the NPC was highly variable, and most clinicians did not assess the quality of the convergence movement or perform convergence fusional amplitude testing in making the diagnosis of CI. CONCLUSIONS: Our review has demonstrated the range of criteria within one group of practitioners to diagnose CI. This may reflect our current understanding and the need for an evidence-based definition of the disease and its diagnosis.


Subject(s)
Ocular Motility Disorders/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Ocular Motility Disorders/complications , Ocular Motility Disorders/physiopathology , Practice Patterns, Physicians'/standards , Refractive Errors/etiology , Refractive Errors/physiopathology , Visual Acuity/physiology , Young Adult
2.
Ophthalmology ; 124(10): 1523-1531, 2017 10.
Article in English | MEDLINE | ID: mdl-28495150

ABSTRACT

PURPOSE: To determine the personalized rate of uveal melanoma-related metastasis on the basis of individual tumor cytogenetic profile. DESIGN: Retrospective case series. PARTICIPANTS: A total of 1059 patients with uveal melanoma. METHODS: Fine-needle aspiration biopsy (FNAB) for DNA amplification and whole genome array-based assay were performed for analysis of chromosomes 3, 6, and 8. MAIN OUTCOME MEASURES: Melanoma-related metastasis. RESULTS: The mean patient age was 57 years, and most were white (1026/1059, 97%). The melanoma involved the choroid (938/1059, 89%), ciliary body (85/1059, 8%), or iris (36/1059, 3%), with 19% being macular in location. The mean largest basal diameter was 11 mm (median, 12 mm; range, 3-24 mm), and mean thickness was 5 mm (median, 4 mm; range, 1-20 mm). On the basis of individual chromosomal mutations, risk for metastasis was increased for chromosome 3 partial monosomy (hazard ratio [HR], 2.84; P = 0.001), 3 complete monosomy (HR, 6.7, P < 0.001), 6q loss (HR, 3.1, P = 0.003), 8p loss (HR, 21.5, P < 0.001), and 8q gain (HR, 9.8, P < 0.001). Kaplan-Meier estimate for melanoma-related metastasis in 1, 3, 5, and 7 years for 3 partial monosomy was 1%, 5%, 14%, and 17%; for 3 complete monosomy was 3%, 19%, 28%, and 37%; for 6q loss was 8%, 23%, 49%, and 49%; for 8p loss was 8%, 29%, not estimable (NE), and NE; and for 8q gain was 6%, 21%, 35%, 48%, respectively. On the basis of personalized cytogenetic profiles, Kaplan-Meier estimates (1, 3, and 5 years) for melanoma-related metastasis for 3, 6, and 8 disomy (1%, 1%, 4% [HR, 1]) were low compared with the higher-risk combinations of 3 complete monosomy, 6p gain, and 8q gain (0%, 29%, 29% [HR, 10.6, P = 0.02]); 3 complete monosomy, 6 disomy, 8q gain, and 8p gain (14%, 14%, NE [HR, 18.3, P = 0.02]); 3 complete monosomy, 6 disomy, and 8q gain (8%, 27%, 39% [HR, 19.5, P < 0.001]); and 3 complete monosomy, 6 disomy, 8q gain, and 8p loss (3%, 28%, NE [HR, 31.6, P < 0.001]), respectively. CONCLUSIONS: Risk for melanoma-related metastasis strongly correlates with personalized cytogenetic profiles, with 5-year Kaplan-Meier estimates ranging from 4% with chromosomes 3, 6, and 8 disomy up to 39% for 3 complete monosomy, 6 disomy, and 8q gain.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 3/genetics , Chromosomes, Human, Pair 6/genetics , Chromosomes, Human, Pair 8/genetics , Melanoma/diagnosis , Melanoma/genetics , Uveal Neoplasms/diagnosis , Uveal Neoplasms/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy, Fine-Needle , Child , Cytogenetic Analysis , DNA, Neoplasm/analysis , Female , Genome-Wide Association Study , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Neoplasm Metastasis , Nucleic Acid Amplification Techniques , Prognosis , Retrospective Studies
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