Lens Coloboma Research Articles

Rare association of lens coloboma and retinitis pigmentosa in Marfan syndrome

A 17-year-old female, a known case of Marfan syndrome, presented with complaints of diminution of vision in both the eyes for 10 years. Clinical examination revealed that the presence of lens coloboma with advanced retinitis pigmentosa (RP) in the right eye and left eye showed cataractous changes along with persistent hyperplastic primary vitreous (PHPV) on ultrasonography B scan. This report describes the rare association of RP, lens coloboma, and PHPV in Marfan syndrome.

Acquired lens coloboma following iridectomy

Acquired lens coloboma following iridectomy

Isolated Unilateral Temporal Coloboma of the Lens

Lens coloboma is a rare congenital anomaly that occurs due to failure of the foetal fissure to close completely causing an incomplete formation of the lens, so usually inferonasal. Temporal lens coloboma is extremely rare; reported cases were associated with ocular or systemic anomalies. We report a rare case of unilateral atypical temporal lens coloboma without any iris abnormality and posterior segment coloboma or any other ocular or systemic anomaly.
 An 18-year-old female presented with a gradually progressive painless diminution of vision in her left eye for two years. There was no history of trauma, and family history was non-contributory. The systemic examination was normal. Ocular examination revealed a vision of 6/6 in the right eye and 6/60 in the left eye improving to 6/24 with pinhole and unilateral atypical temporal coloboma of the crystalline lens in the left eye after dilatation. The rest of the anterior segment and fundus examination was normal. No abnormality was detected in the right eye. The best corrected visual acuity of 6/6 OD and 6/9 OS was achieved with spectacle correction at 6 months of follow-up. This case is a rare presentation of unilateral atypical coloboma located temporally without any iris abnormality and posterior segment coloboma or any other ocular or systemic anomaly. Early correction of refractive error and astigmatism results in good prognosis.

Traumatic cataract in atypical lens coloboma

Traumatic cataract in atypical lens coloboma

Diverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.

Marfan's syndrome (MFS) is an autosomal dominant connective tissue disorder with defect in the fibrillin-1 gene. The most common ocular manifestation is subluxated lens in the superotemporal direction, accounting for 50%-85% of total cases. The association of lens coloboma with MFS has been described in literature, but the coexistence of lens coloboma with ectopia lentis is a rare feature. Here, we describe three cases of MFS including a case of bilateral lens coloboma with ectopia lentis: case 1 - a 39-year-old male with inferotemporal lens subluxation in the right eye and superotemporal lens subluxation in the left eye with open-angle glaucoma and high myopia, case 2 - a 15-year-old child with bilateral superonasal lens subluxation with lens coloboma, and case 3 - a 56-year-old female with bilateral lens coloboma. Case 1 and case 2 had clear lenses with good refractive correction; hence, they were optically rehabilitated with contact lenses, whereas case 3 was advised for cataract surgery. It is important to distinguish the lens coloboma from a more common entity, ectopia lentis as former usually remains stable while the latter might need a surgical intervention.

Congenital anomalies of lens shape.

The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.

Is it a coloboma or not? A new definition for isolated lens coloboma: focal zonular dysgenesis

Is it a coloboma or not? A new definition for isolated lens coloboma: focal zonular dysgenesis

Fundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies

Most ocular lesions have been described for children with congenital Zika syndrome. The frequency of finding ocular abnormalities is unknown among children exposed to Zika virus (ZIKV) during pregnancy. This study was conducted on newborns whose mothers were positive for ZIKV, confirmed with reverse-transcription polymerase chain reaction (RT-PCR) testing. To report ocular fundus manifestations in newborns with congenital ZIKV exposure in French Guiana, Martinique, and Guadeloupe, French West Indies, to assess its prevalence. Risk factors, such as the presence of extraocular fetopathies and the gestational term at infection, were sought. This was a cross-sectional multicentric study, conducted from August 1, 2016, to April 30, 2019, for which data were collected prospectively. The study inception was at the beginning of 2016 from the onset of the ZIKV epidemic in the French West Indies. Newborns whose mothers tested positive (by RT-PCR) for ZIKV during pregnancy were included. Fundus examination was performed using widefield retinal imaging after pupil dilation. Infection date, delivery mode, and newborn measurements were collected. Anomalies of the vitreous, choroid, retina, and optic disc. A total of 330 children (mean [SD] age, 68 [IQR, 22-440] days; 170 girls [51.5%]) were included. Eleven children (3.3%) had perivascular retinal hemorrhages, and 3 (0.9%) had lesions compatible with congenital ZIKV infection: 1 child had torpedo maculopathy, 1 child had a chorioretinal scar with iris and lens coloboma, and 1 child had a chorioretinal scar. Retinal hemorrhages were found at childbirth during early screening. Lesions compatible with congenital ZIKV infection were not associated with the presence of extraocular fetopathy. Microcephaly was not associated with lesions compatible with congenital ZIKV infection (odds ratio [OR], 9.1; 95% CI, 0.8-105.3; P = .08), but severe microcephaly was associated with an OR of 81 (95% CI, 5.1-1297.8; P = .002). Results of this cross-sectional study suggest that the ocular anomalies found may be associated with ZIKV in 0.9% of the exposed population. Ocular lesions were rare, affected mostly the choroid and retina, and seemed to be associated with choroiditis-related scarring that developed during fetal growth.

Lunar lenses - Acquired lens colobomas.

Acquired lens colobomas secondary to ocular surgeries are scarcely described in the literature. We describe two cases of acquired lens coloboma in two infants with glaucoma who underwent ocular surgery. The coloboma in the first case was likely because of direct trauma to the lens zonules during an optical iridectomy with a vitrectomy cutter, resulting in localized loss of zonules and consequently localized lens coloboma. The coloboma in the second case was noticed during examination under anesthesia after scleral buckling and cryopexy for retinal detachment. The cause for coloboma development in this case could be disruption of the lens zonules because of stretching of the globe after scleral buckle surgery or because of injury to zonules during scleral buckling and the cryopexy procedure.

Bilateral lens coloboma in Marfans syndrome

A 20-year-old male with Marfans syndrome complained of gradual progressive diminution of vision in the right eye (RE) for 6 months. A slit-lamp examination revealed bilateral inferior lenticular coloboma with cataractous changes involving the visual axis in RE. The patient underwent phacoemulsification with a foldable intraocular lens and capsular tension ring implantation in view of zonular dehiscence in the RE. Other eye was managed conservatively.

Bilateral lens coloboma in child with Marfan's syndrome treated with lens surgery

Bilateral lens coloboma in child with Marfan's syndrome treated with lens surgery

Lens coloboma secondary to neglected buphthalmos

A 36-year-old male presented with progressive diminution of vision OS for 3 months. He was a known case of bilateral congenital glaucoma who underwent trabeculectomy at 6 months and 5 years of age OD and OS respectively. Best corrected visual acuity was 6/24 OD and 1/60 OS. Slit lamp examination revealed bilateral Haab striae (Figure 1a) with lens subluxation OS evident by the scalloped border of the lens with broken zonules in the superonasal quadrant and lens coloboma in the inferonasal quadrant with the absence of zonules (Figure 1b,c,d). A posterior subcapsular cataract was also noted OS. Advanced glaucomatous optic nerve cupping was noted OU. An intraocular pressure of 10 mm Hg OD and 16 mm Hg OS was noted. Biometry documented an axial length of 26.30 mm OD and 28.75 mm OS with a keratometry of 42.50D/46.50D @20˚/110˚OD and 37.75D/40.00D @ 45˚/135˚OS. Ultrasound bio-microscopy depicted increased sphericity of the lens with broken zonules OS (Figure 1e).

Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.

Seven Northern Inuit Dogs (NID) were diagnosed by pedigree analysis with an autosomal recessive inherited oculoskeletal dysplasia (OSD). Short-limbed dwarfism, angular limb deformities and a variable combination of macroglobus, cataracts, lens coloboma, microphakia and vitreopathy were present in all seven dogs, while retinal detachment was diagnosed in five dogs. Autosomal recessive OSD caused by COL9A3 and COL9A2 mutations have previously been identified in the Labrador Retriever (dwarfism with retinal dysplasia 1—drd1) and Samoyed dog (dwarfism with retinal dysplasia 2—drd2) respectively; both of those mutations were excluded in all affected NID. Nine candidate genes were screened in whole genome sequence data; only one variant was identified that was homozygous in two affected NID but absent in controls. This variant was a nonsense single nucleotide polymorphism in COL9A3 predicted to result in a premature termination codon and a truncated protein product. This variant was genotyped in a total of 1,232 dogs. All seven affected NID were homozygous for the variant allele (T/T), while 31/116 OSD-unaffected NID were heterozygous for the variant (C/T) and 85/116 were homozygous for the wildtype allele (C/C); indicating a significant association with OSD (p = 1.41x10-11). A subset of 56 NID unrelated at the parent level were analysed to determine an allele frequency of 0.08, estimating carrier and affected rates to be 15% and 0.6% respectively in NID. All 1,109 non-NID were C/C, suggesting the variant is rare or absent in other breeds. Expression of retinal mRNA was similar between an OSD-affected NID and OSD-unaffected non-NID. In conclusion, a nonsense variant in COL9A3 is strongly associated with OSD in NID, and appears to be widespread in this breed.

Bilateral inferior lens coloboma in a case of Marfan's syndrome

Bilateral inferior lens coloboma in a case of Marfan's syndrome

Indications and clinical outcomes of capsular tension ring implantation in phacoemulsification surgery at a tertiary teaching hospital: A review of 4316 cataract surgeries

To reveal the indications, clinical outcomes and complications of capsular tension ring (CTR) implantation in a series of consecutive phacoemulsification surgeries during a three-year interval. A review of all patients undergoing cataract surgery with insertion of a CTR between 2010 and 2013 was conducted at our tertiary teaching ophthalmology department. The demographic details of patients, indications and clinical outcomes of CTR implantation were evaluated. Between 2010 and 2013, 4316 phacoemulsification surgeries were performed and of these surgeries CTR implantation was done in 41 eyes of 36 patients. The indications of CTR implantation were zonular dehiscence or weakness associated with mature cataract (29.2%), trauma (24.3%), pseudoexfoliation syndrome (19.5%), retinitis pigmentosa (14.6%), degenerative myopia (9.7%), and lens coloboma (2.4%). Posterior chamber intraocular lens (PCIOL) was implanted into the capsular bag in all eyes. Dislocation of PCIOL was not observed in any case. Transient IOP increased in 5 eyes (12%) and corneal edema in 14 eyes were noted. Posterior capsular opasification in 1 eye (2.4%), anterior capsule phimosis in 1 eye (2.4%) and cystoid macular edema in 1 eye (2.4%) were detected as late complications. The frequency of CTR implantation was 0.97% due to our study. In complicated cataract surgeries, CTR implantation seems to improve clinical outcomes.

Crystalline coloboma

Case reportWe present a 73-year-old female diagnosed with lens coloboma when she was going to be operated on for cataracts. DiscussionThe incidence of congenital coloboma of the eye is estimated to be 0.5 per 10000 newborns in Spain, 1.4 in France, 2.6 in United States, and 7.5 in China. The diagnosis is clinical by observing the defect. The visual prognosis depends on the extent and severity of the coloboma. The treatment of the cataract was by phacoemulsification with an intraocular lens using a capsular tension ring.

Coloboma de cristalino

Case reportWe present a seventy-three year-old female diagnosed with lens coloboma when she was going to be operated on for cataracts. DiscussionThe incidence of congenital coloboma of the eye is estimated to be 0.5 per 10000 newborns in Spain, 1.4 in France, 2.6 in United States, and 7.5 in China. The diagnosis is clinical by observing the defect. The visual prognosis depends on the extent and severity of the coloboma. The treatment of the cataract was by phacoemulsification with an intraocular lens using a capsular tension ring.

Surgical outcomes of isolated lens coloboma with or without cataract among young adults

ObjectiveTo evaluate the visual and refractive outcomes after phacoemulsification surgery in eyes with isolated lens coloboma. DesignProspective, consecutive case series. ParticipantsEighteen eyes with isolated lens coloboma of 13 patients were included in the study. Mean patient age was 13.9 ± 6.5 years. MethodsPatients underwent phacoemulsification surgery, with combined implantation of capsular tension ring (CTR) and intraocular lens. In colobomas of less than 120°, a CTR was used, whereas in colobomas of more than 120°, a Cionni-modified single eyelet CTR was used to achieve better capsular centration. The main outcome measures were uncorrected distance visual acuity, corrected distance visual acuity, refraction, and keratometry. ResultsMean logMAR uncorrected distance visual acuity and corrected distance visual acuity improved significantly from 1.53 ± 0.35 and 1.02 ± 0.47 before surgery to 0.67 ± 0.51 and 0.52 ± 0.49 at the last visit of the follow-up (p < 0.001). Mean refractive cylinder and spherical equivalent decreased significantly from –6.73 ± 1.73 and –6.72 ± 4.07 D preoperatively to –1.40 ± 1.39 and –0.83 ± 1.31 D at the end of the follow-up (p = 0.001 and p = 0.01, respectively). Mean keratometric astigmatism at preoperative and postoperative visits were 1.58 ± 0.97 and 1.65 ± 0.94 D, respectively (p = 0.70). ConclusionsPhacoemulsification with CTR and intraocular lens implantation is an effective and safe option for providing a refractive correction and a significant visual improvement in eyes with isolated lens coloboma.

A Retinal Detachment Case with a Delay in Diagnosis Due to Unilateral Lens Coloboma and Bilateral Ectopic Pupil

A Retinal Detachment Case with a Delay in Diagnosis Due to Unilateral Lens Coloboma and Bilateral Ectopic Pupil

Ciliary Body Medulloepithelioma: Analysis of 41 Cases

To describe the clinical features, histopathology, treatment, and outcomes of ciliary body medulloepithelioma. Retrospective study. Forty-one patients with medulloepithelioma. Cryotherapy, plaque radiotherapy, external beam radiotherapy, tumor removal by partial lamellar sclerouvectomy (PLSU), or enucleation. Metastasis and death. Of 41 patients with ciliary body medulloepithelioma, the median age at diagnosis was 5 years. The mean tumor basal diameter was 11 mm, and the mean tumor thickness was 7 mm. Related features included secondary glaucoma (n = 18, 44%), iris neovascularization (n = 21, 51%), cataract (n = 19, 46%), lens subluxation (n = 11, 27%), lens coloboma (n = 8, 20%), retrolental neoplastic cyclitic membrane (n = 21, 51%), intratumoral cysts (n = 25, 61%), and extraocular extension (n = 4, 10%). There was systemic association with pleuropulmonary blastoma in 2 cases (5%). Primary tumor treatment included enucleation (n = 21, 60%), tumor removal by PLSU (n = 8, 23%), plaque radiotherapy (n = 3, 9%), external beam radiotherapy (n = 1, 3%), cryotherapy (n = 1, 3%), or palliative chemotherapy (n = 1, 3%). In 1 case, medulloepithelioma was diagnosed histopathologically after inadvertent evisceration for blind painful eye. Subsequent treatment for residual or recurrent tumor in cases treated conservatively/inappropriately (n = 15) was necessary in 7 cases (47%). Histopathology disclosed benign features in 6 cases (20%), malignant features in 24 cases (80%), teratoid features in 11 cases (37%), and nonteratoid features in 19 cases (63%). In the 26 enucleated eyes, other features included retrolental neoplastic cyclitic membrane (n = 18, 69%), neoplastic epiretinal membrane (n = 6, 23%), and persistent hyaloid artery (n = 6, 23%). Systemic metastasis occurred in 3 cases (8%) over a mean follow-up of 49 months, all of whom presented with extrascleral extension of tumor due to mean delay in diagnosis by 39 months. Medulloepithelioma most commonly occurs in children. Systemic association with pleuropulmonary blastoma rarely is found. Patients with extrascleral medulloepithelioma are at risk for metastasis.