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Clinical and surgical data of affected members of a classic CFEOM I family.

ABSTRACT: BACKGROUND:Congenital fibiosis of the extraocular muscles (CFEOMI) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOMI family. METHODS:Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. RESULTS:All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. CONCLUSIONS:Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family.

SUBMITTER: Magli A

PROVIDER: S-EPMC155649 | biostudies-literature | 2003 Apr

REPOSITORIES: biostudies-literature

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Clinical and surgical data of affected members of a classic CFEOM I family.

Magli Adriano A de Berardinis Teresa T D'Esposito Fabiana F Gagliardi Vincenzo V

BMC ophthalmology 20030417

<h4>Background</h4>Congenital fibiosis of the extraocular muscles (CFEOMI) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOMI family.<h4>Methods</h4>Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, ...[more]

PMID: 12702216

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Project description:PurposeAddiction is a major health stressor for families, representing an under-researched area with important policy implications. The current aim was to validate the Composite Codependency Scale, which captures the psychological characteristics of affected family members, and assess quality of life as mediated by family functioning.MethodsClose relatives (n?=?271) of patients in treatment for substance use disorder (SUD) participated in a 4-day psychoeducational program. We also recruited a general population sample (n?=?393) via an online social media site. Data were analyzed using multigroup confirmatory factor analysis (MGCFA) and a latent regression model. Differences in subscale latent means were applied to ascertain how the scale discriminated the two populations.ResultsMGCFA yielded a shortened, nine-item partial scalar invariant scale (SCCS) that allowed comparison of latent means. The SCCS discriminated between family members and the general population, with family scoring higher on all three scale dimensions. By effect size, family had higher means (mean differences; 95% confidence intervals) for 'emotional suppression' (0.48; 0.36-0.59; p?<?0.001; effect size, 0.92), 'interpersonal control' (0.47; 0.36-0.59; p?<?0.001; effect size, 0.97), and 'self-sacrifice' (0.20; 0.10-0.29; p?<?0.001; effect size, 0.43). Higher SCCS scores were associated with greater family dysfunction (??=?1.00, 95% CI 0.63-1.36; p?<?0.001) and worse quality of life (??=?-?0.23, 95% CI -?0.30 to -?0.16; p?<?0.001), confirming the concurrent validity of the SCCS.ConclusionWhen family members of people with addictions had the psychological characteristics of suppressing their emotions, believing they could fix others' problems, and neglecting their own for others' needs, they also had more family dysfunction and poorer quality of life. The SCCS offers a valid instrument for addressing the life situation of affected families. This scale can help clinicians focus on family members within health services, especially within SUD treatment services.

Dataset Information

Clinical and surgical data of affected members of a classic CFEOM I family.

Publications

Clinical and surgical data of affected members of a classic CFEOM I family.

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