Congenital Microphthalmos Research Articles

Postoperative complications and axial length growth after bilateral congenital cataract surgery: eyes with microphthalmos compared to a comparison group.

To investigate the postoperative clinical outcomes and axial length (AL) growth of infants with congenital cataracts and microphthalmos following first-stage cataract surgery. Retrospective case-control study. Setting: Single centre. Infants with congenital cataract that met the inclusion criteria were classified into two groups: the microphthalmos and comparison groups. All infants underwent a thorough ophthalmologic examination before surgery, and one week, 1 month, 3 months, and every 3 months after surgery. This study enrolled 21 infants (42 eyes) in the microphthalmos group and 29 infants (58 eyes) in the comparison group. More glaucoma-related adverse events were observed in the microphthalmos group (7 eyes, 16.7%) than in the comparison group (0 eyes, 0%) (p < 0.001). At each subsequent follow-up, the comparison group had a greater AL than the microphthalmos group (all p < 0.001), and AL growth was significantly higher in the comparison group than in the microphthalmos group (all p = 0.035). Visual acuity improvement in the microphthalmos group was similar to that of the comparison group. Early surgical intervention improves visual function in infants with congenital cataracts and microphthalmos although with a higher incidence of glaucoma-related adverse events. After cataract removal, the AL growth of microphthalmic eyes is slower than that of normally developed eyes.

Clinical Results of Prosthetic Eye Wear in Patients with Congenital Microphthalmos

Purpose: To report the long-term clinical outcomes of non-surgical treatment involving prosthetic eye wear in patients diagnosed with congenital microphthalmos.Methods: A retrospective review of the medical records of 20 patients was conducted. In total, 21 eyes were diagnosed with congenital microphthalmos between May 2008 and December 2022 at Seoul St. Mary’s Hospital in Korea.Results: This study included 20 patients (12 males and 8 females) with an average age of 4 months at diagnosis. The observed ophthalmic anomalies included two cases of congenital cataract, one of posterior embryotoxon, one of corneo-iris strand, four of iris coloboma, five of central corneal opacity, one of Peter's anomaly, and one of retrobulbar cyst. Accompanying systemic abnormalities were noted, such as lateral ventricle atrophy, corpus callosum atrophy, patent ductus arteriosus, atrial septal defect, and developmental language disorder. Genetic anomalies included anti SS-A/Ro antibody positivity, a 1:100 titer of anti-nuclear antibody, and a PAX6 mutation identified through next-generation sequencing. No specific family histories or pregnancy-related factors were noted. The average follow-up duration was 5.94 years (range: 1 month to 18 years), the average corneal diameter was 4.6 mm, the average axial length was 17.44 mm, the average age for first artificial eye trial was 5.96 years (range: 7 months to 19 years), and the average interval for artificial eye replacement was 22 months (range: 4 months to 5 years and 8 months).Conclusions: Twenty patients with congenital microphthalmos underwent gradual expansion of their prosthetic eyes by regular replacement and size increase without severe complications. This approach led to aesthetically and emotionally positive outcomes for the patients.

A naturally occurring canine model of syndromic congenital microphthalmia.

In humans, the prevalence of congenital microphthalmia is estimated to be 0.2-3.0 for every 10,000 individuals, with nonocular involvement reported in ∼80% of cases. Inherited eye diseases have been widely and descriptively characterized in dogs, and canine models of ocular diseases have played an essential role in unraveling the pathophysiology and development of new therapies. A naturally occurring canine model of a syndromic disorder characterized by microphthalmia was discovered in the Portuguese water dog. As nonocular findings included tooth enamel malformations, stunted growth, anemia, and thrombocytopenia, we hence termed this disorder Canine Congenital Microphthalmos with Hematopoietic Defects. Genome-wide association study and homozygosity mapping detected a 2 Mb candidate region on canine chromosome 4. Whole-genome sequencing and mapping against the Canfam4 reference revealed a Short interspersed element insertion in exon 2 of the DNAJC1 gene (g.74,274,883ins[T70]TGCTGCTTGGATT). Subsequent real-time PCR-based mass genotyping of a larger Portuguese water dog population found that the homozygous mutant genotype was perfectly associated with the Canine Congenital Microphthalmos with Hematopoietic Defects phenotype. Biallelic variants in DNAJC21 are mostly found to be associated with bone marrow failure syndrome type 3, with a phenotype that has a certain degree of overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and reports of individuals showing thrombocytopenia, microdontia, and microphthalmia. We, therefore, propose Canine Congenital Microphthalmos with Hematopoietic Defects as a naturally occurring model for DNAJC21-associated syndromes.

Congenital Microphthalmos with Optic Nerve Glioma

Congenital Microphthalmos with Optic Nerve Glioma

Clinical Congenital Anophthalmos and Microphthalmos-Experiences of Patients and Their Parents after More than 10 Years of Treatment.

Congenital clinical anophthalmos and blind microphthalmos describe the absence of an eye or the presence of a small eye in the orbit. Between 1999 and 2013, 97 children with anophthalmos or microphthalmos were treated with self-inflating, hydrophilic gel expanders at the Rostock Eye Clinic. More than a decade later, this study investigated the perspective of patients and parents regarding the treatment, the surgical outcome, and the emotional and social well-being of the patients. A total of 22 families with 16 patients sighted in the other eye and six patients blind in both eyes participated. Questionnaires were developed, including items on physical, emotional, social, and medical aspects. The patients felt emotionally stable and integrated into their social environment, with no major limitations reported by the majority. These statements were confirmed by most of the parents. Parents (67%) indicated that the success of the operation was already apparent after the first intervention and that the current situation did not play a role in the patients' social environment. The study provided new insights into the therapy results, the postoperative care, and the social and emotional stability of the prosthesis-wearing patients, indicating the chosen expander methods as promising in terms of positive postoperative care.

Deep Orbital Hyaluronic Acid Gel Filler for Volume Augmentation in Orbital Dysplasia.

Orbital dysplasia is caused by congenital microphthalmos, anophthalmos, or eye atrophy. Orbital volume growth is known to parallel ocular growth and the absence of an eye results in noticeable hemifacial deformity that affects patients' lives. The aim of this study was to observe the effects of injections of hyaluronic acid gel into the orbit combined with ocular prosthesis to treat orbital dysplasia. Three patients with orbital dysplasia who were 3 to 7 years old treated in our department. Each year, the hyaluronic acid gel was injected into each patient intraconal and extraconal posterior orbit and each wore an ocular prosthesis. The length of the palpebral fissure and orbital volume were measured before and after the injections. A total of 9 injections were performed on 3 patients ages 7, 5, and 4 years old, respectively. The follow-up periods were 5, 5, and 2 years. The authors observed significant improvements in patient appearance. The length of the palpebral fissure and the volume of the orbit increased linearly with the increasing age, and there were no complications, such as intraorbital hemorrhage or local hyperplastic stimulation. Orbital hyaluronic acid gel injection and combined with an ocular prosthesis is a safe, convenient, and effective treatment for orbital dysplasia.

Therapeutic Strategies in 103 Children with Congenital Microphthalmos.

Congenital microphthalmos can either occur alone (simple microphthalmos) or be associated with other ocular malformations, such as sclerocornea or cataract (complex microphthalmos). As this is a rare condition, there are no uniform recommendations for treatment. Retrospective case series of 103 patients or a total of 114 eyes with congenital microphthalmos, with reporting of age, sex, visual acuity, pupil reaction, axial length, horizontal width of the palpebral fissure, type of therapy performed and complications. All patients would have been able to be fitted with a prosthesis primarily. The size of the palpebral fissure depended on the underlying findings: "bilateral microphthalmos" < "microphthalmos and healthy fellow eye" < "microphthalmos and fellow anophthalmos". In order to assess visual (residual) function in an infant in the first weeks or months of life, the pupillary response is of the upmost importance in deciding on therapy, especially in unilateral disease, and as assessed with the indirect light response of the healthy eye. In about half of the cases, conservative prosthetic treatment was sufficient. After the successful initial fitting of a prosthesis, the prosthesis was enlarged according to the ocularist's instructions. If the eye length difference was so large that symmetry could not be achieved even with a double-walled prosthesis, volume filling with retrobulbar implanted self-swelling pellet expanders (osmed GmbH, Ilmenau) was offered. In almost one third of the patients, no surgical therapy or prosthetic treatment was performed. The reason for this was usually the presence of minimal visual function of the microphthalmos - ranging from light perception to hand movements. In the case of visual function of the microphthalmos, surgical measures should not be indicated or only with extreme caution, since the preservation of the existing visual acuity must be regarded as having priority over the cosmetic findings. In cases of asymmetry or underdeveloped palpebral fissure, therapy can be started early in the first year of life without fear of resulting complications.

Ocular manifestations of Fraser syndrome in children. A clinical case

A clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital abnormalities and may be accompanied by cryptophtalmos (anophthalmos or microphthalmos). A complex clinical and instrumental examination of the infant revealed the following ophthalmic manifestation of the Fraser syndrome: congenital abnormalities of eyelids, reduced palpebral fissures, significant reduction of the conjunctival sac, microcornea, vitreous fibrosis and retinal detachment. Non-surgical treatment and rehabilitation of infants with congenital microphthalmos consists in stepwise ocular prosthetics.

Management of congenital microphthalmos and anophthalmos with orbital cyst

To study the effects of an individualized treatment approach to children with congenital microphthalmos and anophthalmos. Patients with congenital microphthalmos or anopthalmos with orbital cysts who were referred to Beijing Tongren Hospital between July 2009 and July 2017 were included in this retrospective case series study. For patients ≤6years of age, the cyst was retained to promote orbital development unless a prosthesis could not be fitted at all or disproportionate orbital growth was detected. Hydrogel orbit expanders were implanted initially if orbital volume was poor. For patients >6years of age, the cyst was removed if it caused cosmetic problems or unsatisfactory prosthesis fitting. Eyelid procedures were performed after puberty to improve appearance. The study included 26 orbits of 24 patients. Of the 14 patients ≤6years, 3 underwent cyst excision, 8 were treated with conformers only, and 3 had hydrogel orbit expander implantation initially. Of the 10 patients >6years, 1 had the cyst removed, 5 had eyelid surgeries without removing the cyst, 3 wore an artificial eye without any surgery, and 1 used no prosthesis. During the follow-up period (range, 6months to 8years), 23 patients had a good cosmetic outcome and were eventually able to retain an ocular prosthesis; 1 patient could not wear prostheses but refused further treatment. No procedure-related complications were noted. The individualized treatment of congenital microphthalmos and anophthalmos with orbital cysts depends on the patient's age at presentation, the growth pattern of the cyst, and the volume of the affected orbit.

Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital

ABSTRACTPurpose: The purpose of the study is to evaluate demographic data and outcomes of the management of congenital anophthalmia/microphthalmia.Methods: This retrospective, descriptive, cross-sectional study evaluated patients with congenital anophthalmia/microphthalmia managed from 2004 to 2014 at a tertiary hospital in Saudi Arabia. Data were collected on patient age, gender, cause, orbital status, laterality, systemic comorbidities, ocular evaluation, and management (type of surgery, type of orbital implant, and complications). The main outcome measure was the ability to hold the prosthesis.Results: The study sample was composed of 513 eyes/sockets of 365 patients. Two-hundred and seventeen (59.4%) patients were unilateral cases. Forty-one (8%) sockets were due to congenital anophthalmia and 471 (92%) were due to microphthalmia. There were 73.2% isolated cases and 28.5% with systemic involvement. Systemic involvement was more common in bilateral cases. The most commonly associated conditions were central nervous disorders. One-hundred and nineteen (46.7%) cases had parental consanguinity. Two hundred and eighteen eyes/sockets (163 patients) underwent surgery including conjunctival flap (38; 17.4%), evisceration (38; 17.4%), enucleation (16; 7.3%), or procedures to improve the anophthalmic socket volume (45; 20.6%). Volume enhancing procedures included polymethylmethacrylate orbital implants (26; 57.8%), expanders (11; 24.4%), integrated hydroxyapatite or polyethylene implants (2; 4.4%), and dermis-fat graft (6; 13.3%). In most cases, clinical or surgical management resulted in a successful outcome.Conclusion: Anophthalmia/Microphthalmia was detected in 36.5 patients/year. The majority had isolated microphthalmia. Good outcomes were achieved with clinical or surgical management in the majority of cases.

NEW OPPORTUNITIES IN THE REHABILITATION OF CHILDREN WITH CONGENITAL ANOPHTHALMOS AND MICROPHTHALMOS WITH METHOD OF STEP-BY-STEP PROSTHETICS

Purpose. to present new opportunities in the rehabilitation of children with congenital anophthalmos and microphthalmos with method of step-by-step prosthetics. Material and methods. the analysis of clinical material for 3 years (2015-2017) on the basis of ocular prosthetics office of Moscow Helmholtz Research Institute of Eye Diseases. The clinical group consisted of 155 children: with congenital anophthalmos - 59 patients and microphthalmos - 96 patients (bilateral microphthalmos (9), bilateral anophthalmos (5)). The age of patients ranged from 1 month to 11 years. Under the age of 1 year, there were 82 children (53%). The identified dynamics in the age category of children significantly increased the number of patients under the age of 1 year who were treated for primary ocular prosthetics (53% for 2015-2017. versus 20.2% for 2000, 2013). Results. all 155 patients were treated for dilatation of the conjunctival cavity by the method of step-by-step eye prosthetics. To step eye prosthesis used set increasing in size retail, which can be varied in 3-4 weeks as stretching of soft tissues. In congenital anophthalmos to achieve stable results were performed from three to 6-7 replacement of the eye prosthesis, in congenital microphthalmos, depending on the size of the eye 4-6 replacement of the eye prosthesis. The volume of eye prosthesis used for 3 years increased by 4-5 times, respectively, noted an increase in the size of the conjunctival cavity, eyelids and the size of the orbit. Conclusion. The possibility of frequent and timely replacement of the medical eye prosthesis ensures the gradual formation of an adequate conjunctival cavity, and, accordingly, the development of bone orbit and eyelids. This treatment tactics promotes both functional and cosmetic rehabilitation of patients of early childhood with congenital anophthalmos and microphthalmos.

Orbital tumor associated with a microphthalmic eye and colobomatous cleft: Pilocytic astrocytoma (glioma) or massive retinal gliosis

A 11-year-old boy with congenital microphthalmos of the right eye presented with gradual protrusion of his ocular prosthesis. MRI showed an orbital mass adjacent to the microphthalmic eye. After removal of the eye and the orbital soft tissue mass a gliotic mass, resembling a pilocytic astrocytoma WHO grade 1 (glioma) was diagnosed. Through a colobomatous cleft in the eye the tumour spread in the orbit. There were no clinical signs of neurofibromatosis 1. This case showed a very rare association between a microphthalmic and colobomatous eye and pilocytic astrocytoma, grade 1. However a far advanced and infiltrative massive retinal gliosis cannot be definitively excluded as differential diagnosis.

THE CLINICAL CASES OF PALLISTER-KILLIANS’S SYNDROME IN A CHILD

This article was designed to report a clinical case of a rare syndromic disease - Pallister-Killians’s syndrome characterized by the signs of mental deficiency, abnormal features of cranial bones , congenitally reduced arterial pressure, multiple abnormalities of the facial features (including the eyes and the mouth cavity), ears, skeleton, the cardiovascular system, nervous system, and other systems of the body. The syndrome was described for the first time in 1977 by Philip Pallister and thereafter investigated in more detail by Maria Teschler-Nicola and Wolfgang Killian in 1981. In our case, the somatic status of a 3 month-old child presenting with this pathological condition was characterized by a large variety of congenital defects of the nervous system, including corpus collosum hypoxia, ischemic lesions of the brain tissue, bilateral subependymal pseudocysts, lenticulostriate agniopathies, and congenital heart failure. The pathological changes of the visual analyzer manifested themselves as unilateral grade 3 microphthalmos, sclerocornea, optic nerve disk coloboma, narrowing of the palpebral fissure, considerable decrease of the size of the conjunctival cavity in the absence of the appreciable alterations in the eye ball. Rehabilitation of the affected child with congenital microphthalmos included gradual ocular prosthetics and the treatment by the specialists of other medical professions.

Etiopathogenesis of childhood proptosis

Aim: To study the etiology, presentation and management of proptosis in children less than 14 years of age. Materials and Methods: This is prospective interventional study conducted at the department of Oculoplasty and Orbital diseases of Sarojini Devi eye hospital, Hyderabad. Period of study was from August 2012 to July 2014. 120 eyes of 111 children presenting as proptosis to the department were included in the study. Adult cases of Proptosis were excluded from the study. All cases underwent a detailed proptosis evaluation by an experienced oculoplasty surgeon. CT scan of orbit, axial and coronal view, 2mm cut without contrast was modality of imaging in all cases. CT scan with contrast was done in selected cases. Complete blood picture and surgical profile investigations were done. Cases were posted for excision or incision biopsy under general anaesthesia. Histopathological diagnosis was obtained in required cases. Culture and sensitivity of pus was done in infective cases. Results: 111(14.83%) cases of childhood proptosis were there out of 748 cases of proptosis presented during the study period to the department. The Male to Female ratio was 55:46. 102 cases were of unilateral proptosis and 9 were bilateral. Common etiology for childhood proptosis was 28 congenital, 18 infective, 20 parasitic, 36 neoplasm, 6 secondaries and 3 trauma cases. Of 111 cases 28 had acute proptosis, 25 had Sub acute presentation and 58 cases had chronic presentation. Management of 111 cases was done as follows: 48 cases underwent surgery, 41 were managed medically, 10 cases were referred to Medical Oncologist and 12 cases of congenital crouzons disease and microphthalmos were not intervened. Conclusion: Childhood proptosis forms 14.83% of total proptosis cases presenting at department of Oculoplasty and Orbital diseases. Etiological spectrum is different when compared to adult Proptosis.(1) Keywords: Congenital, Infective, Neoplasm, Parasitic, Proptosis

Optical coherence tomography findings of retinal folds in nanophthalmos

SummaryNanophthalmos is a rare form of congenital microphthalmos and it can be seen in siblings due to genetic transmission. The eye is small in overall dimensions including short axial length (16–18.5 mm) with shallow anterior chamber and almost normal lens size. Typically high hyperopia is seen. Posterior findings include; cupless and crowded optic disc, and elevated papillomacular retinal folds. Optic Coherence Tomography (OCT) can reveal retinal fold with normal retinal pigment epithelium and choriocapillaris. It is presumed that the retinal folds in nanophthalmos result from a redundancy of the retinal layer caused by retarded growth of the scleral, choroidal, and retinal pigment epithelial layers and OCT can demonstrate papillomacular retinal folds that are confined to the neurosensory retina.

Clinical case of congenital microphtalmos with cyst

The paper contains a detailed description of the clinical case of a rare ophthalmic congenital disease - congenital microphthalmos with cyst. Obtained information may facilitate a correct diagnosis and treatment of this condition and may be useful for practicing ophthalmologists.

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

BackgroundCongenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed.MethodsWe clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed.ResultsAll patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene.All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild.ConclusionsClinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.

Findings of perinatal ocular examination performed on 3573, healthy full-term newborns

ObjectiveTo document the findings of a newborn eye examination programme for detecting ocular pathology in the healthy full-term newborn.MethodsThis is a cross-sectional study of the majority of newborns born in...

Therapiemöglichkeiten bei funktionslosem Mikrophthalmus und klinischem Anophthalmus

Children suffering from congenital anophthalmos (absence of eyes) or blind microphthalmos (eyes too small without light perception) show significant smaller eyelids, conjunctival sacs and orbital volume due to the lack of intrauterine growth stimulus. Highly hydrophilic osmotic expanders allow prostheses to be fitted in the first year of life to compensate for the volume deficit and the substantial aesthetic disadvantages and to stimulate lid development.

Efficacy of reconstruction for congenital microphthalmos

To investigate the therapeutic procedures and their efficiencies for the treatment of congenital microphthalmos during or after the developing period. It was a retrospective case series study. Eighteen cases with congenital microphthalmos, aged less than 12 years, underwent self inflating osmotic hydrogel expanders. Among them, 11 cases were treated by implantation with sphere self-inflating hydrogel expanders into the retrobulbar space and 5 cases had implantations into the conjunctival socket. The remaining 2 cases were treated with implantation of injectable self-inflating hydrogel pellet expanders. Twenty eight cases with congenital microphthalmos, aged more than 12 years, accompanied with other deformities, were treated with proper reconstruction surgery. Fourteen cases were treated with medial canthoplasty, 12 cases were treated with medial and lateral canthoplasty, 3 cases were treated with ptosis correction and medial or lateral canthoplasty and 2 cases with socket reconstruction. T-test was used for the comparison between groups. Sixteen cases obtained satisfactory results without any complications. In one case, the hydrogel expanders migrated inferiorly in the orbit and underwent adjustment. In another case, although the hydrogel expander prolapsed from the socket, the socket was still expanded. In the developing period, the length of palpebral fissure was (15.83 ± 1.87) mm before the operation, and that made much wider after the operation (18.67 ± 1.74) mm. There were statistically significant differences between them (t = -4.029, P = 0.01). The height of palpebral fissure was (1.33 ± 0.67) mm and (6.00 ± 0.58) mm before and after the operation, respectively, which were statistically significant (t = -5.813, P = 0.00). Patients who aged more than 12 years and underwent eyelids and eye socket reconstruction, also obtained satisfactory appearance. Patients with congenital microphthalmos could obtain the development of orbit and satisfactory appearance by reconstruction treatment according to different period of development.