Coloboma Research Articles

Congenital iris coloboma repair with excision of colobomatous sphincter muscle.

Congenital iris colobomas do not usually present a major optical issue until the time of cataract surgery, when an intraocular lens is placed in the eye that is roughly half the diameter of the crystalline lens. Leaving the coloboma unrepaired or sutured closed without addressing the sphincter muscle in the coloboma often creates visual challenges for the eye postoperatively. The problem has previously been addressed, in part, with a technique that creates a scissor snip between the normal iris sphincter and the colobomatous iris sphincter, but still requires notable peripheral iris traction and root disinsertion for closure of the defect. The technique presented here removes all iris sphincter from the sides of the coloboma allowing closure of the colobomatous defect without the need to create iridodialyses. In certain cases, the use of iris diathermy can be used to create focal iris contraction to maximize sphericity and centration of the pupil.

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India

AimsTo describe the clinical features, visual acuity and causes of ocular morbidity in children (0–18 years) with microphthalmos, anophthalmos, and coloboma (MAC) from North India.MethodsA retrospective study conducted between October...

Triple Trouble–Microcornea, Iris Coloboma and Hard Cataract: Outcome of Phacoemulsification in This Perilous Journey

Triple Trouble–Microcornea, Iris Coloboma and Hard Cataract: Outcome of Phacoemulsification in This Perilous Journey

Décollement de rétine bilatéral sur colobome choriorétinien

Décollement de rétine bilatéral sur colobome choriorétinien

<p>FLACS in Congenital Iris Coloboma: A Useful Technique</p>

This paper reports the technique and outcome of femtosecond laser-assisted cataract surgery (FLACS) in an iris coloboma patient (59-year-old male patient) with bilateral grade 3 cataractous lens and a shallow anterior chamber. Best-corrected visual acuity (BCVA) was 0 on logMAR with spherical equivalent (SE) 9 D in the right eye, and BCVA of 0.3 logMAR with a SE 8.75 D in the left. FLACS was performed on the left then the right eye using the Catalys platform of Johnson & Johnson (intraocular lens implantation of AMO Tecnis 1 ZCB00). Customized parameters were constructed to create capsulotomies of 4.54.7 mm for the left and right eyes, respectively, with manual centration of the distorted pupils. On the second day of follow-up, left-eye BCVA was 0.5 with SE 1 D, and right-eye BCVA was 1 with SE −0.75 D. At the 1-year follow-up, eyes showed stable bilateral Tecnis 1 IOL and refraction. FLACS is a safe surgical option with stable outcomes in cases of cataract with iris coloboma.

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.

Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterises the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilateral iris and retinal coloboma, developmental delay and additional, variable multisystem features. The variants fall within a highly conserved region upstream of the WD-repeat domains, within an apparent mutation cluster. Consistent with the literature, intellectual disability, structural eye disorders, epilepsy, congenital heart disease, genitorenal anomalies and dysmorphic facial features were observed. In addition, a broader developmental profile is reported with a more specific musculoskeletal phenotype described in association with the novel variant (p.Thr115Ile). We further expand the phenotypic spectrum of WDR37-related disorders to include those with milder developmental delay and strengthen the association of ocular coloboma and musculoskeletal features. We promote the inclusion of WDR37 on gene panels for intellectual disability, epilepsy and structural eye disorders.

Baraitser-Winter syndrome in a male patient with a uterus

Introduction Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disorder with fewer than 50 cases reported in the literature. Features include facial dysmorphism, ocular coloboma, brain abnormalities, hearing defects, intellectual disability and kidney abnormalities. We describe a case of a male infant with de novo mutation for BRWS with a new and unexpected finding of a uterus and vagina in the pelvis. This is the first reported case of a …

CASE REPORT WAARDENBURG SYNDROME TYPE I WITH IRIS AND RETINAL COLOBOMA

We present a rare case report, Waardenberg syndrome type I, and ocular abnormalities related to the disease. A Boy, 11 months, presented with blue and hole in inferior iris. Patien also controlled to pediatric and ENT departement according his global developmental delayed, and unresponsiveness to sound stimulus since birth. Patient presented with distophia cantrorum, bilateral iris coloboma, brilliant blue iris, and retinal coloboma. Others systemic condition were skin hypopigmentation, bilateral sensorineural hearing lost, and global developmental delay equal to 6 months old baby. According to manifestations, this supporting diagnosis for Waardenberg syndrome type I. The management consists in treating the symptoms accordingly. Careful follow up and work up is important to improve patient quality of life

Diagnosis and treatment of primary intraspinal abscess

To summarize the feature and treatment of the primary intraspinal abscess in order to improve the prognosis. In the study, 13 cases of primary intraspinal abscess of the recent 20 years were retrospectively analyzed. The history, etiology, pathogen, surgical methods and prognosis were summarized. The course of the illness ranged from 7 days to 6 months. All the cases began with pain. Of the 13 patients, 10 had limb weakness. Five had a fever and 8 had increased white blood cells. As for distribution, 1 was in cervical vertebra, 1 in cervicothoracic junction, 1 in thoracic vertebra, 4 in thoracolumbar junction, and 6 in lumbosacral segment. The results of bacterial culture were positive in 4 cases, 3 cases were diagnosed as tuberculosis by pathological examination, and 1 case was recognized as infection of Brucella melitensis bacteria because of prior brucellosis. The pathogen of the remaining cases were unclear. All the cases received surgical treatment and pathology examination. The surgical aim was mainly removal of the lesion, decompression and drainage. Postoperatively anti-infection and glucocorticoid therapy were performed according to the pathogeny results and clinical experience. Incision abscesses were seen in 2 cases and reoperations including debridement and repair with transferred muscle flap were performed. Postoperative follow-up ranged from 6 months to 3 years (mean 1.8 years). One case suffered postoperative recurrence and the abscess spread along the vertebral canal. Reoperation was performed. Infections of all the cases were recovered completely and the nervous system signs were all improved in different degrees. The onset of primary intraspinal abscess is relatively urgent, mainly with pain. The lumbar and sacral vertebra is the predilection site. The bacterial culture is mostly negative. Early operation and use of sufficient amount of broad-spectrum antibiotic are recommended. If the incision abscess forms after the operation, it is advisable to transfer the muscle flap to repair the coloboma on the basis of debridement. In order to relieve edema of spinal cord and nerve root, the glucocorticoid can be used in the escort of antibiotics.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BackgroundJoubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the pathognomonic midbrain-hindbrain malformation on magnetic resonance imaging. The disorder is predominantly caused by biallelic mutations in more than 30 genes encoding proteins with a pivotal role in morphology and function of the primary cilium. Oligogenic inheritance or occurrence of genetic modifiers has been suggested to contribute to the variability of the clinical phenotype. We report on a family with peculiar clinical spectrum Joubert syndrome molecularly and clinically dissecting a complex phenotype, in which hypogonadism, pituitary malformation and growth hormone deficiency occur as major features.Case presentationA 7 year-old male was enrolled in a dedicated “Undiagnosed Patients Program” for a peculiar form of Joubert syndrome complicated by iris and retinochoroidal coloboma, hypogonadism pituitary malformation, and growth hormone deficiency. The molecular basis of the complex phenotype was investigated by whole exome sequencing. The concomitant occurrence of homozygosity for mutations in KIF7 and KIAA0556 was identified, and the assessment of major clinical features associated with mutations in these two genes provided evidence that these two independent events represent the cause underlying the complexity of the present clinical phenotype.ConclusionBeside the clinical variability of Joubert syndrome, co-occurrence of mutations in ciliopathy-associated genes may contribute to increase the clinical complexity of the trait.

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

Purpose To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited. DNA was extracted from peripheral blood samples collected from all individuals in the family. Whole exon sequencing was employed for screening the disease-causing gene mutations in the proband, and Sanger sequencing was used for other members of the family and a control group of 500 healthy individuals. Bioinformatics analysis and three-dimensional structure predictions were used to predict the impact of amino acid changes on protein structure and function. Results The candidate genes of cataract and iris coloboma were successfully screened out. A heterozygote mutation, CRYGD c.70C>A (p.P24T), was identified as cosegregating with congenital cataracts, while another heterozygous mutation, WFS1 c.1514G>C (p.C505S), which had not been reported previously, cosegregated with congenital iris coloboma. Bioinformatic analyses and three-dimensional structure prediction proved that the three-dimensional structures of WFS1 c.1514G>C (p.C505S), which had not been reported previously, cosegregated with congenital iris coloboma. Bioinformatic analyses and three-dimensional structure prediction proved that the three-dimensional structures of CRYGD c.70C>A (p.P24T), was identified as cosegregating with congenital cataracts, while another heterozygous mutation, Conclusions We report a novel mutation, WFS1 p.C505S, and a known mutation, CRYGD p.P24T, that cosegregate with iris coloboma and congenital cataract, respectively, in a Chinese family. This is the first time the association of WFS1 p.C505S with iris coloboma has been demonstrated, although CRYGD p.P24T has been widely reported as being associated with congenital cataract, especially in the Eastern Asian population. These findings may have future therapeutic benefit for the diagnosis of iris coloboma and congenital cataract. The results may also be relevant in further studies aiming to investigate the molecular pathogenesis of iris coloboma and congenital cataract.WFS1 c.1514G>C (p.C505S), which had not been reported previously, cosegregated with congenital iris coloboma. Bioinformatic analyses and three-dimensional structure prediction proved that the three-dimensional structures of CRYGD c.70C>A (p.P24T), was identified as cosegregating with congenital cataracts, while another heterozygous mutation, WFS1 c.1514G>C (p.C505S), which had not been reported previously, cosegregated with congenital iris coloboma. Bioinformatic analyses and three-dimensional structure prediction proved that the three-dimensional structures of CRYGD c.70C>A (p.P24T), was identified as cosegregating with congenital cataracts, while another heterozygous mutation,

Congenital Anomalies Associated with microtia – Anotia: Review of 30 Cases

Background: Microtia-anotia has a global prevalence of 2.6 per 10,000 live births. Children with microtia-anotia will have an associated anomaly or an identifiable syndrome pattern in 20–60% of cases.1 The most common anomalies are facial cleft, facial asymmetry, renal abnormalities, cardiac defects, microphthalmia, polydactyly, and vertebral anomalies.
 Methods: This series consists of retrospective study of 30 patients who presented to the department of ENT, KEM Hospital between January 2010 to June 2013. Case Records of patients with congenital external ear deformity who presented to the E.N.T. Department during the time period from January 2010 to June 2013 were reviewed for the grade of microtia. The patients were also evaluated for associated congenital anomalies.
 Results: Associated anomalies in patients included facial paralysis, unilateral renal agenesis, congenital heart diseases, Cleft palate, microphthalmia, microcornea, iris coloboma, hemivertebra. Also Goldenhar syndrome / Hemifacial microsomia, Treacher- Collin syndrome and Pierre- Robin syndrome were the related syndromes to congenital external ear deformity in our series.
 Conclusion: Congenital external deformities may be associated with spectrum of other anomalies and the patient should receive best coordinated care from otolaryngologists, audiologists, paediatricians, heart specialist to improve the quality of life. Early hearing assessment should be followed by proper rehabilitation for adequate speech and language development.
 Bangladesh J Otorhinolaryngol; October 2016; 22(2): 78-83

Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma.

Objectives:To measure lamina cribrosa thickness (LCT), lamina cribrosa depth (LCD) and subfoveal choroidal thickness (SFCT) by imaging posterior ocular structures in pediatric cases with isolated unilateral iris coloboma and to investigate the differences as compared with healthy contralateral eyes of these cases (fellow eyes) and healthy control eyes.Methods:This cross-sectional, comparative prospective study included seven children (age range, 9-17 years) with unilateral isolated iris coloboma. The healthy contralateral eyes of these cases formed the fellow group. An age-matched (age range 8-17 years) control group (n=9), including children with both eyes having either normal or corrected-to-normal visual acuity, was formed. A detailed ophthalmic examination was performed. The posterior ocular segments were evaluated using spectral domain-optical coherence tomography (SD-OCT) with enhanced depth imaging (EDI) technique.Results:The SFCT was 372.0±48.8 µm, 375.3±44.0 µm, and 386.5±71.8 µm, respectively, and the LCD was 362.4±68.3 µm, 354.4±47.1 µm, and 350.7±38.1 µm, respectively, in the coloboma, fellow, and control eyes. There was no difference between the groups regarding SFCT and LCD. The mean LCT was significantly thinner in the coloboma eyes (200.2±9.5 µm) than in the fellow (238.8±26.7 µm; p=0.023) and control eyes (240.0±12.9 µm; p<0.001). The LCT showed no significant correlation with age, axial length or spherical equivalent.Conclusion:Better visual prognosis is expected in isolated iris coloboma. However, detailed examinations using new technologies, such as SD-OCT, may reveal some structural changes. Longitudinal studies are required to understand if a thinner LCT in coloboma eyes is associated with any future problems.

Retinitis pigmentosa with bilateral irido-fundal coloboma

A 40-year-old male, presented with gradual painless progressive loss of vision in both the eyes more in right since 1 year. Born out of consanguineous marriage, he gave a history of night blindness since childhood. The best-corrected visual acuity was 20/200 and 20/40 in right and left eye, respectively. Refraction showed an axial myopia of -9.00 DS/-1.50 DC at 100 degree in the right eye. The left eye showed refraction of +1.00 DC at 170 degree. Intraocular pressure with noncontact tonometer was 15 and 16 mm of Hg. Axial length was found to be 24.93 mm and 23.60 mm in right and left eye, respectively. Vertical and horizontal corneal diameters were 11 mm in both eyes. Keratometry values in the right eye were K vertical 43.55D, K horizontal 44.06D and in the left eye were K vertical 43.05D, K horizontal 43.49D. Slit-lamp examination revealed a clear cornea and normal anterior chamber depth. Inferonasal iris coloboma was noted in both eyes [Fig. 1]. The lens showed nuclear sclerosis grade 2 with posterior subcapsular opacification in right and nuclear sclerosis grade 2 in the left eye according to the Lens Opacities Classification System II (LOCS II) The posterior segment showed a normal-looking disc with minimal arteriolar attenuation, boney spicules distributed from the mid periphery throughout the retina in both eyes. Chorio-retinal coloboma was type 3 (separated from the optic disc by a clear area of the retina) in the right eye [Fig. 2] and type 7 (extreme peripheral coloboma) in the left eye [Fig. 3] according to Ida Manns classification. B scan ultrasonography showed an excavated lesion in the inferior aspect suggestive of fundus coloboma in the right eye. In the left eye the coloboma was not well demarcated on B scan ultrasonography.Figure 1: Anterior segment photographs with diffuse illumination (a) Right eye showing inferonasal iris coloboma with cataractous lens. (b) Left eye showing inferonasal iris colobomaFigure 2: (a) Fundus photograph of right eye showing coloboma in the inferior quadrant sparing disc and macula with bony spicules in the mid periphery. (b) Fundus photograph right eye, superonasal quadrant showing bony spicules in the mid peripheryFigure 3: (a) Fundus photograph of left eye depicting bony spicules in mid periphery and extreme peripheral coloboma inferiorly. (b) Peripheral coloboma with bony spicules in inferior quadrantPhacoemulsification with intraocular lens implantation under topical anesthesia was done in the right eye. Postoperatively at the end of 1 month best-corrected visual acuity was 20/30 in the right eye with a refraction of -0.75 DC at 80 degrees and near vision of N6 with + 3.00 DS. Discussion Retinitis pigmentosa is most commonly associated with posterior subcapsular cataract 53%[1] glaucoma 2.3%[2] myopia, keratoconus, vitreous detachment, and optic disc drusen. Association of macular colobomas with retinitis pigmentosa, especially autosomal dominant RP and Ushers syndrome has been extensively reported in the literature. In 2004, phenotypically different RP with macular coloboma was reported by Parmeggiani in 3 adult siblings[3], which was stated as an autosomal dominant feature. The association of iris and fundal coloboma with RP has been rarely reported in the literature. Kelly et al.[4] described the incidence, ocular findings, and systemic associations of coloboma in a population-based cohort study in the United States, reported one case with unilateral coloboma in association with RP. Population-based studies in India are scanty. Pallavi Agrawal et al.[5] reported a similar case of unilateral coloboma from a case in Mumbai, India in 2013. Bilateral Irido-fundal coloboma and RP can be separate entities occurring together in this case, or it could be a rare association. Similar cases/case series need to be reported to come to a conclusive result. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report

Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-ophthalmos, microcornea, inferior iris coloboma with suspected retinochoroidal coloboma in right eye (OD). Ultrasound B scan of OD was done which confirmed the above findings along with the presence of membranous echoes attached to the disc. On MRI of right orbit, retinal detachment with colobomatous cyst in the posterior aspect of the eyeball was present. OD was enucleated with parenteral consent and silicon ball and socket reconstruction was done. We thereafter examined the enucleated eyeball grossly as well as by histopathological examination. Herein, we present the pathological features of a case of persistent fetal vasculature (PFV) supported by gross and microscopic examination with a special emphasis on the presence of colobomatous cystic optic disc in a micro-ophthalmic eye. Conclusion: This is one of the rare associations of PFV making this original report a unique one.

A rare case of stickler marshall syndrome

A 35 year old female presented to us with sudden painless diminution of vision in the right eye (RE) since 10 days. There was no history of trauma. She gave systemic history of hearing loss since 4 years of age and also complained of joint pains on and off for which she was taking medical treatment. Best corrected visual acuity in the RE was Hand movements (HM+) and in the left eye (LE) was 20/20 with -5D spherical correction. Anterior segment examination in the RE revealed horizontal jerky nystagmus, typical complete inferonasal iris coloboma with aphakia in primary gaze(Figure 1). On examining the eye in downgaze on slit lamp, heterogenous lenticular opacity could be seen in the anterior vitreous phase suggestive of spontaneously dislocated crystalline lens in the vitreous cavity(Figure 2). LE anterior segments was within normal limits. Fundoscopy of the RE revealed Type 4 Retinochoroidal(RC) coloboma (Ida Mann's classification) with posterior vitreous detachment (PVD) and LE fundus was normal. Ultrasound B scan of the RE revealed dislocated crystalline lens in the vitreous cavity with PVD and RC coloboma thus confirming the findings(Figure 3,4,5). The patient was planned for pars plana vitrectomy with lensectomy in the RE.

Clinical Spectrum and Long-Term Anatomical and Functional Outcomes of Pars Plana Vitrectomy in Retinal Detachments Associated With Choroidal Coloboma.

Choroidal coloboma (CC) eyes are associated with a high risk of retinal detachment (RD), which are challenging to repair. We retrospectively evaluated medical records of 30 patients with CC associated with RD who underwent pars plana vitrectomy at our tertiary care center. Data recorded were age, CC and RD morphology, breaks, resurgeries performed, and final outcome. Patients' ages ranged from 2 to 49 years. CC was present in 53 of 60 eyes (88%), with 41 of 60 eyes (68.3%) associated with iris coloboma. RD was present in 36 of 53 CC eyes (67.9%), with 10 of 53 (18.9%) having bilateral RD. Thirty-one eyes with RD underwent 23-gauge pars plana vitrectomy. Colobomatous region breaks were detected in 5 of 31 eyes (16.1%), peripheral breaks only in 12 of 31 (38.7%), and both types in 3 of 31 eyes (9.7%). Silicone oil endotamponade was used in 29 of 31 eyes (93.5%) and perfluoropropane (C3F8) in 2 of 31 eyes (6.45%). Median postoperative follow-up duration was 31.5 months. Fourteen of 31 eyes (45.2%) developed redetachment requiring resurgery, with 50% developing within 6 months. Eighteen of 31 eyes (58.1%) maintained retinal attachment at last follow-up without endotamponade, whereas the rest were oil filled. Final visual outcome between macula-involved and macula-spared CC eyes was not significantly different; however, best visual acuity achieved any time during follow-up was significantly better in macula-spared eyes. RD surgery in CC eyes has a risk of frequent redetachments and subnormal gain of vision over the long term, especially in colobomas involving the macula. Endolaser in 360° peripheries in addition to barrage of the margin of the coloboma may be considered to help maintain the attached retina.

Study of Congenital Ocular Anomalies Prevalent in Routine Eye OPD in a Tertiary Care Hospital

Aims: Congenital ocular anomalies require treatment, visual rehabilitation and genetic counselling. Goes undetected in neonates and children due to lack of routine eye checkup. Diagnosed later during eye examination or when come for disability certificate.&#x0D; Study Design: Prospective and observational study.&#x0D; Place and Duration of Study: We conducted study at tertiary care hospital, over a period of six months (from January 2018 to June 2018).&#x0D; Methodology: Patients with congenital ocular anomalies irrespective of their age were identified. Findings were confirmed by detailed ocular examination and investigations when required. Whatever best management like correcting refractive error, surgery, low vision aids or rehabilitation was advised. Those having acquired defects giving similar appearance as in congenital anomalies, cases of ocular trauma, infections, with prior surgical intervention were excluded.&#x0D; Results: Over a period of six months 128 eyes were detected with congenital ocular anomalies. The most common anomalies were microphthalmos, microcornea and iris coloboma seen in 85 eyes. Other congenital anomalies were congenital cataract, nystagmus, anophthalmos, aniridia, congenital glaucoma, Ankyloblepharon, coloboma of disc, congenital esotropia, lid coloboma, congenital ptosis, axenfield anomaly, limbal dermoid.&#x0D; Conclusion: Patient with congenital ocular anomalies and their parents should be counseled regarding possible current treatment, visual prognosis and genetic counselling regardless of age and time of presentation.

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum

Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only 5 of 22 previously reported patients show structural brain abnormalities.We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome.