A case of ectopic cilia in nail-patella syndrome.

Both ectopic cilia and nail-patella syndrome (NPS) are rare entities. To our knowledge we report the first case of the two anomalies coexisting in one patient. We present the case of a 2-year-old girl, with no other ophthalmic complication of NPS, who had an excellent cosmetic outcome and no lesion recurrence following surgical excision of ectopic cilia.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to nineteen. We then collated clinical data from new and published cases to determine an accurate prognosis for PRPF8-RP. Clinical data for 75 PRPF8-RP patients were compared, revealing that while the effect on peripheral retinal function is severe, patients generally retain good visual acuity in at least one eye until the fifth or sixth decade. We also noted that prognosis for PRPF8-RP differs with different mutations, with p.H2309P or p.H2309R having a worse prognosis than p.R2310K. This correlates with the observed difference in growth defect severity in yeast lines carrying the equivalent mutations, though such correlation remains tentative given the limited number of mutations for which information is available. The yeast phenotype is caused by lack of mature spliceosomes in the nucleus, leading to reduced RNA splicing function. Correlation between yeast and human phenotypes suggests that splicing factor RP may also result from an underlying splicing deficit.

Comparison of optical coherence tomography and scanning laser polarimetry in glaucoma, ocular hypertension, and suspected glaucoma.

BACKGROUND AND OBJECTIVE: To compare the performance of the newest generation optical coherence topography (OCT) and scanning laser polarimetry with variable corneal compensation (SLP-VCC) in eyes with glaucoma, ocular hypertension, and suspected glaucoma. PATIENTS AND METHODS: One eye each of 84 patients (30 with glaucoma, 26 with suspected glaucoma, and 28 with ocular hypertension) was included in the study. Retinal nerve fiber layer (RNFL) thickness was measured with both technologies and thickness parameters were compared in the three groups of eyes. The correspondence of RNFL thickness measurements with visual field function was also studied. RESULTS: Average OCT-RNFL thickness was found to have a statistically significant difference between patients with glaucoma and either suspected glaucoma or ocular hypertension. A statistically significant correlation between the average RNFL thicknesses measured by the two different technologies was shown only in the glaucoma group. A significant correlation with visual field mean deviation was found for superior average RNFL thickness as measured by SLP and for nerve fiber indicator and average and inferior average RNFL thickness as measured by OCT in glaucomatous eyes. Regression analysis indicated nerve fiber indicator to be the most valuable factor in predicting mean deviation. CONCLUSION: RNFL thickness measurements obtained with OCT and SLP-VCC correlate well only in eyes with more advanced glaucomatous damage. The nerve fiber indicator parameter derived by SLP correlated best with mean deviation.

Myectomy versus anterior transposition for inferior oblique overaction.

BACKGROUND: Inferior oblique overaction can be either secondary (as a sequela of ipsilateral superior oblique palsy) or primary (commonly associated with horizontal strabismus). Superior oblique underaction often coexists with both primary and secondary inferior oblique overaction. This retrospective case series compares the efficacy of inferior oblique myectomy versus anterior transposition in improving inferior oblique overaction and superior oblique underaction in eyes with either primary or secondary inferior oblique overaction. METHODS: One hundred twenty eyes of 81 patients were included in this retrospective case series, of which 20 had anterior transposition of the inferior oblique and 100 eyes underwent myectomy. Inferior oblique myectomy was compared with inferior oblique anterior transposition in improving inferior oblique overaction and superior oblique underaction in each diagnostic subgroup. Postoperative outcome was qualitatively and quantitatively assessed. Fisher's exact test was used to compare the outcomes. The quantitative improvement of function in terms of inferior oblique overaction and superior oblique underaction was analyzed by regression analysis. RESULTS: When postoperative inferior oblique overaction was considered, there was no statistically significant difference between myectomy and anterior transposition in both primary and secondary inferior oblique overaction. Myectomy was superior to anterior transposition in improving superior oblique underaction in both primary inferior oblique overaction (OR = 0.14; 95% CI, 0.015-1.45; p = 0.056) and secondary inferior oblique overaction (OR = 0; 95% CI, 0-0.027; p < 0.001). The quantitative improvement of function showed a significant difference between procedures for superior oblique underaction (t-test; p = 0.005; 95% CI, 0.25-1.3) but not inferior oblique overaction (t-test; p = 0.8; 95% CI, -0.67-0.54). CONCLUSIONS: This study demonstrates both inferior oblique myectomy and inferior oblique anterior transposition to be effective in correcting primary and secondary inferior oblique overaction. Myectomy is more effective in improving superior oblique underaction associated with both primary and secondary inferior oblique overaction. On this basis, we feel that inferior oblique myectomy has some advantage over anterior transposition in treating combined inferior oblique overaction and superior oblique underaction and can be considered the procedure of choice.

Optical coherence tomography appearance of "drusenoid" pigment epithelial detachment.

A case of bilateral "drusenoid" pigment epithelial detachment that was studied with fundus fluorescein angiography and optical coherence tomography is described. Fundus fluorescein angiography depicted staining of the drusen without any sign of pooling of the dye, whereas optical coherence tomography displayed detachment of the retinal pigment epithelium. These findings remained unchanged during a 10-month period.

Tied and tidy: closing the conjunctiva over adjustable sutures.

BACKGROUND: Adjustable sutures have revolutionized strabismus surgery. Numerous techniques have been described that aim to facilitate postoperative adjustment. Nevertheless, some sort of procedure is always necessary following adjustable suture surgery and has to be arranged within 24 hours. Where no adjustment is required, the muscle needs to be secured at the existing position and the conjunctiva, sometimes left on a loop, has to be tidied up and sutured. METHODS: As fewer than half of the operated on eyes need a final adjustment, we describe a technique whereupon the muscle is left on a loop and the conjunctiva is closed over it with two interrupted polyglactin 910 sutures. If an adjustment is deemed necessary, one of the sutures has to be cut and replaced at the end of the procedure. When the result of squint surgery is satisfactory and no muscle movement is needed, no further manipulation of the conjunctiva is required. CONCLUSIONS: In a series of 17 patients, we have found this technique to be excellent for patient comfort and time efficiency. We have not encountered any muscle slippage. We think that the ease of postoperative management may tend to bias the surgeon against adjustment.

Multifocal intraocular lens differentiation using defocus curves.

PURPOSE: To determine the most appropriate analysis technique for the differentiation of multifocal intraocular lens (MIOL) designs by using defocus curve assessment of visual capability. METHODS: Four groups of 15 subjects were implanted bilaterally with either monofocal intraocular lenses, refractive MIOLs, diffractive MIOLs, or a combination of refractive and diffractive MIOLs. Defocus curves between -5.0 D and +1.5 D were evaluated by using an absolute and relative depth-of-focus method, the direct comparison method, and a new "area-of-focus" metric. The results were correlated with a subjective perception of near and intermediate vision. RESULTS: Neither depth-of-focus method of analysis was sensitive enough to differentiate between MIOL groups (P > 0.05). The direct comparison method indicated that the refractive MIOL group performed better at +1.00 diopter (D), -1.00 D, and -1.50 D and worse at -3.00 D, -3.50 D, -4.00 D, and -5.00 D than did the diffractive MIOL group (P < 0.05). The area-of-focus intermediate zone was greater with the refractive than with the diffractive MIOL group (P = 0.005) and the near zone was better with the diffractive (P = 0.020) and "mix and match" (P = 0.039) groups than with the refractive MIOL group. The subjective perception of intermediate and near vision agreed best with the area-of-focus metric for the intermediate (r(s) = 0.408, P = 0.010) and near zone (r(s) = 0.484, P < 0.001). CONCLUSIONS: Conventional depth-of-focus metrics provide a single value to quantify the useful range of vision; however, they fail to provide sufficient detail to differentiate between MIOL designs. The direct comparison method provides a large amount of information, although the results can be complex to interpret. The proposed area-of-focus metric provides a simple, but differentiating method of evaluating MIOL defocus curves.

Local anesthesia: A feasible option for pediatric frontalis sling surgery.

The purpose of this study was to demonstrate the suitability of local anesthesia in the pediatric age group for oculoplastic procedures. The authors present a case of frontalis sling surgery performed under local anesthesia in a 15-year-old boy with bilateral congenital ptosis. No significant technical difficulties were encountered during the procedure. Optimal intraoperative eyelid placement was facilitated by the patient's comfort and cooperation. For some selected children, local anesthesia is a good alternative to general anesthesia to obtain the best outcome.