CHARGE syndrome without colobomas: Ophthalmic findings.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.

Ocular coloboma combined with cleft lip and palate: a case report.

BACKGROUND: Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the association between these two phenotypes in the absence of other systemic abnormalities. We present a case of ocular coloboma along with CL/P and without other neurological abnormalities. CASE PRESENTATION: A 5-year-old Asian boy presented with decreased visual acuity in his right eye. Physical examination revealed no abnormal findings except CL/P, which was surgically corrected at the age of 9 months. Best-corrected visual acuity was 20/60 in the right eye and 20/25 in the left eye. Anterior segment examination revealed iris coloboma in the inferior quadrant of his right eye as well as a large inferonasal optic disc and chorioretinal coloboma in the same eye. He was prescribed glasses based on his cycloplegic refractive errors and part-time occlusion of the left eye was recommended. After 3 months, best-corrected visual acuity improved to 20/30 in the right eye. CONCLUSION: The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.

OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA.

PURPOSE: To estimate the outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy and silicone oil tamponade. METHODS: A retrospective chart review of 10 eyes (10 patients) who underwent pars plana vitrectomy for retinal detachment with chorioretinal coloboma. RESULTS: The average age at the time of the surgery was 29.8 ± 19.7 years. The mean follow-up period was 28.8 ± 28.4 months. The mean silicone oil tamponade duration was 9.8 ± 3.5 weeks. Of 10 eyes, 4 (40%) had retinal breaks outside the coloboma, 4 (40%) had breaks inside the coloboma, 1 (10%) had breaks inside and outside the coloboma, and in 1 eye (10%); the causative retinal break was not localized. Preoperatively, the mean visual acuity was 20/2,500 (n = 9), and 1 (10%) was recorded as "Not CSM." At the final examination, the mean visual acuity for the patients with measurable visual acuity was 20/200 (P = 0.06), and in the remaining eye was recorded as light perception. The retina was finally reattached in nine eyes (90%). Postoperative complications included cataract in three (30%), persistent elevated intraocular pressure in one (10%), band keratopathy in one (10%), and proliferative vitreoretinopathy in one (10%). CONCLUSION: Complete pars plana vitrectomy with or without lensectomy, laser photocoagulation around the peripheral retina, around all the peripheral breaks and around the colobomatous area, and silicone oil tamponade is effective for retinal detachment in eyes with chorioretinal coloboma. Silicone oil removal as early as possible did not increase the risk of redetachment and seems to reduce the incidence of oil-related complications in such cases.

SURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group.

PURPOSE: To study the outcomes of management of rhegmatogenous retinal detachment in eyes with chorioretinal colobomas. METHODS: A retrospective review of 119 patients (119 eyes) with chorioretinal colobomas who underwent surgical repair for rhegmatogenous retinal detachment was performed. Data were collected on the site of the retinal break, type of surgery, anatomical success, and complications. RESULTS: The most common location of the primary retinal break was the intercalary membrane in 58.8% of eyes. The most common surgical intervention was vitrectomy with endolaser and silicone oil tamponade (77.3% of eyes). Final anatomical success was achieved in 87.4% of eyes. Anatomical success was significantly higher in eyes that received long-acting tamponade (P = 0.006). Cryotherapy was significantly associated with failure of primary vitrectomy (P = 0.028). Placement of an encircling band did not affect anatomical outcomes (P = 0.75). Most of the eyes (60%) with recurrent retinal detachment after primary vitrectomy had a primary break within the normal retina. CONCLUSION: The optimal option for managing retinal detachment in eyes with chorioretinal colobomas is pars plana vitrectomy with long-acting tamponade (silicone oil or octafluoropropane) and retinopexy to the edge of the coloboma and the primary breaks. Cryotherapy is associated with poor anatomical outcomes. An encircling band does not seem to affect the final anatomical outcome.

RE-INVENTING CYANOACRYLATE RETINOPEXY IN THE 21ST CENTURY: LITERATURE REVIEW AND CASE SERIES.

PURPOSE: We report use of cyanoacrylate (N-butyl-Cyanoacrylate) in previously failed retinal reattachment surgeries for chorio-retinal colobomas. We report the surgical technique, its challenges, and long-term outcomes in three patients who underwent the surgery. METHODS: A chart review of patients with chorio-retinal colobomas and retinal detachment repair with cyanoacrylate at a tertiary eye care center in Nepal. Cyanoacrylate was used to seal colobomatous retinal breaks in eyes which had undergone multiple retinal surgeries with failed outcome. RESULTS: Three eyes that were operated using cyanoacrylate were included. All three patients had attached retina and none of the patients required a long-term tamponading agent. None of the patients underwent head positioning following the surgery. All of the patients had a visual acuity gain of 3/60 or more at the end of 8 months. No adverse or inflammatory reactions were noted. CONCLUSION: We demonstrate that cyanoacrylate is safe and less resource-demanding without a requirement of second surgery to remove a tamponading agent. It could be helpful in eyes with persistent retinal detachment in colobomatous eyes. Because we were able to achieve favorable outcomes without head positioning, we believe it may also be helpful in patients who are not suitable for positioning because of bodily or bony deformities and in retinal detachment with other coexisting trauma.

Coloboma associated retinal detachment: Anatomical and functional results in the era of microincision vitrectomy surgery with an evaluation of risk factors for a recurrence.

Purpose: : To analyze the anatomical and visual outcomes of microincision vitrectomy surgery (MIVS) with silicone oil tamponade in eyes having coloboma-related retinal detachment (RD) and evaluate the risk factors for recurrence of RD. Methods: : This was a retrospective, multicentric analysis of eyes having coloboma RD undergoing MIVS with silicone oil tamponade between March 2010 and July 2018. Results: : We evaluated 148 eyes of 144 patients. The mean age of presentation was 17.4 ± 9.8 years (range: 2-65 years) and the mean follow-up duration was 13.1 ± 13.8 months (range: 3-84 months). The single operation success rate was 88.5% (131 eyes), with an overall successful outcome achieved in 90.5% (134 eyes). Recurrence of RD occurred in 17 eyes (11.5%) over a mean duration of 2.59 ± 3 months. The risk of recurrence was found to be higher in eyes where relaxing retinectomy (RR) was performed (odds ratio [OR]: 3.22; P = 0.05). A statistically significant improvement in vision was noted in the majority of cases from logMAR 1.85 ± 0.34 preoperatively to logMAR 1.33 ± 0.6 post-surgery (P = 0.002). Conclusion: : MIVS with silicone oil tamponade provided an anatomical success rate of 90.5% in eyes with coloboma RD with a significant improvement in visual acuity. Eyes in which RR was performed were susceptible to higher rates of re-detachment.

Outcomes of the Perplexed Surgical Management of Retinal Detachment in Eyes with Coloboma.

PURPOSE: To determine the anatomical and visual outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy, endolaser photocoagulation and silicone oil (SO) tamponade. METHODS: Retrospective review of 29 eyes of 29 patients with retinal detachment associated with chorioretinal coloboma. All the cases were managed by vitrectomy procedures concluding with SO tamponade. Encircling band was placed based on pre-operative evaluation and/or surgeon's discretion. Endolaser photocoagulation was applied around the peripheral retina, all around the peripheral breaks and around the colobomatous area. The outcome measures were evaluated with regard to functional and anatomical success. RESULTS: The average age at the time of surgery was 21.76 ± 9.58 years (range, 10-50 years). The mean follow-up duration was 12.28 ± 4.8 months (range, 6-24 months). Primary attached retina was obtained in 21 / 29 (72.4%) eyes after single surgery. Re-detachment in 8 / 29 (27.6%) eyes which required revision surgery was the most frequent postoperative complication followed by raised intraocular pressure in 4 / 29 (13.8%) with SO in situ. Out of 29 eyes, 23 were followed up after the removal of SO. The mean duration of SO removal was 7.91 ± 3.9 months (range, 4-18 months). Implantation of encircling band, lens removal and cryotherapy provided no added advantage. At the final examination, improvement in vision was observed in 21 (72.4%) eyes and the anatomical attachment of the retina was attained in 27 (93.1%) eyes. CONCLUSIONS: Complete pars plana vitrectomy, endolaser photocoagulation along with SO tamponade is effective for retinal detachment associated with chorioretinal coloboma. This technique improves the anatomical outcome and helps in regaining significant visual acuity.

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.

Optical coherence tomography after pars plana vitrectomy for retinal detachment related to choroidal coloboma.

PURPOSE: The purpose was to study the anatomical outcome of choroidal coloboma with retinal detachment managed by pars plana vitrectomy with silicone oil tamponade using optical coherence tomography. METHODS: Six eyes of six patients with retinal detachment related to choroidal coloboma underwent pars plana vitrectomy with internal tamponade using silicone oil. Pre- and postoperative best-corrected visual acuities, intraocular pressure measurements, and intra- and postoperative complications were obtained. Color fundus photographs and optical coherence tomography images were taken at each follow-up. RESULTS: Patients were observed up to a mean of 14 months (range, 8-18 months). Silicone oil was removed in all eyes. In all patients who had undergone vitrectomy, the retina was completely reattached before and after silicone oil extraction. Postoperatively, best-corrected visual acuities improved in 5 patients and remained unchanged in 1 patient ranging from 20/200 to 20/40 at the last follow-up. Although the retina was reattached in all patients, the optical coherence tomography showed a persistent intercalary membrane detachment in 4 patients (67%). In 1 patient (16%), subclinical retinal detachment that did not increase during the follow-up after silicone oil removal was detected just beyond the margin of the coloboma. CONCLUSION: After vitrectomy and silicone oil removal, optical coherence tomography showed persistent detachment of the intercalary membrane in most patients. These findings emphasize the importance of sealing the junction between the intercalary membrane and extracolobomatous retina with a laser barrier.

Case of nasopharyngeal teratoma: challenges in the management.

Teratomas are tumour with tissue or organ components resembling normal derivatives of more than one germ layer. The most common site of congenital teratoma is sacrococcygeal region. Teratomas in head and neck region are rarer. We report a 4-day-old male baby who presented with nasopharyngeal mass, which led to respiratory distress and feeding difficulty. It was managed with surgical excision with multidisciplinary approach.

Marfan-like syndrome with lens involvement. Hyaloideoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies.

An autosomal dominant syndrome with Marfan-like features was found in a black pedigree. Eye findings included cataract, lens colobomas, dislocated lenses, myopia, hyaloideoretinal degeneration, and abnormalities of the anterior chamber angles. Facial and dental anomalies included slightly underdeveloped bridge of the nose, protruding maxilla, and dental malocclusions. Selected members of this pedigree showed dolichestenomelia or arachnodactyly or both. Good visual prognosis resulted after (1) cataract or dislocated lens surgery and (2) prophylactic therapy of retinal holes and degeneration.

The management of retinal detachments associated with choroidal colobomas by vitreous surgery.

We used vitreous surgery to treat seven patients (eight eyes) with complicated retinal detachments associated with choroidal colobomas. All eyes had large choroidal colobomas and no evidence of peripheral retinal breaks. Small, atrophic breaks were detected in five of the eyes and were located in the base of the coloboma in four of the five eyes. Adjunctive surgical techniques were necessary and included cyanoacrylate retinopexy in four eyes, silicone oil tamponade in five eyes, and retinectomy in two eyes. Retinal reattachment was ultimately attained in seven of the eight eyes. The number of surgical procedures ranged from one to five, with an average of three. Postoperative visual acuity of the eyes that underwent anatomically successful procedures ranged from 20/100 to light perception. Proliferative vitreoretinopathy was the most frequent cause of redetachment, occurring in six of the eight eyes.

The management of retinal detachments associated with choroidal colobomas by vitrectomy with cyanoacrylate retinopexy.

The techniques used and the outcome in eyes treated for retinal detachment associated with choroidal coloboma are described. We reviewed the medical reports on five eyes of five patients with retinal detachment associated with choroidal coloboma who underwent vitrectomy. Retinal breaks were identified at the margin of or within the coloboma and the retina was successfully reattached by vitrectomy and cyanoacrylate retinopexy in four of the five eyes. The remaining one eye, with no visible retinal break both before and during surgery, also underwent cyanoacrylate retinopexy at regions suspected of retinal break, and was successfully reattached. In four eyes (80%) the vision showed improvement and had a visual acuity of 20/100 or better after surgery. None of the eyes required silicone oil tamponade or endophotocoagulation around the disc or at the papillomacular bundle. For the management of retinal detachment associated with choroidal coloboma, cyanoacrylate retinopexy is the method of choice, providing adequate chorioretinal adhesion and satisfactory visual outcome.

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome.

Half nose.

A very rare abnormality is reported of congenital absence of the right half of the nose in combination with microphthalmia, coloboma, epiphora and median cleft of the alveolus.

Selection of surgical technique for retinal detachment with coloboma of the choroid.

Four eyes with rhegmatogenous retinal detachment and coloboma of the choroid were managed by conventional scleral buckling (one eye); scleral buckling combined with lensectomy, vitrectomy, and fluid-air exchange (two eyes); and vitrectomy, silicone oil injection without scleral buckling (one eye). Retinal break was seen within the coloboma in two eyes, at the periphery in one eye, and, both in the coloboma and periphery in one eye. At a follow-up of 15 months, the retina was found attached in all the patients. The success of these surgical procedures could be attributed to careful preoperative/intraoperative fundus examination and individualised surgical planning.

Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred.

The dental, clinical, genetic, radiological and dermatoglyphic findings in patients from a large kindred with congenital hypodontia of maxillary lateral incisors (CHMLI) in association with coloboma of the iris (Cl) and hypomaturation type of amelogenesis imperfecta (HTAI) are presented. The pedigree of the kindred showing multiple consanguinaeous marriages and the findings of the family members with CHMLI and a family member with CHMLI, Cl and HTAI and two members with both CHMLI and HTAI suggested that the isolated CHMLI was due to an autosomal recessive gene, but, the Cl was determined by an autosomal dominant gene linked to CHMLI gene. HTAI was an autosomal recessive character linked to both CHMLI and Cl.