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Biomedical subjects

J R Collin

Publications and source records attributed to J R Collin.

At least 19 recordsLinked to original sources
PubMed2003

The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).

A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES. Forty (20%) had manifest strabismus. Of these, 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error requiring spectacles. Twenty-one (30%) of these patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Forty-three patients had bilateral amblyopia and 40 had unilateral amblyopia, with 26 (65%) of these undergoing occlusion treatment. Of these, 14 had strabismus and refractive error, 7 refractive error only, 2 strabismus only and 3 neither refractive error nor strabismus. We conclude that there is a higher incidence of strabismus and refractive error in patients with BPES than in the normal population.

Blepharophimosis↗
PubMed2001

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable penetrance of this disorder, but the most consistently inherited feature is distichiasis, viz. fine hairs arising inappropriately from the meibomian glands. We established linkage of this disorder to 16q24.3 and the gene has recently been identified as the forkhead transcription factor FOXC2. We report the mutational analysis of 14 families with LD. All but one of these pedigrees have small insertions or deletions in the gene, which seem likely to produce haploinsufficiency. The mutation sites are scattered throughout the gene. There is one family with a mis-sense mutation in the forkhead domain of the protein. This base alteration is not a common polymorphism, is co-inherited with the disease and produces a non-conservative amino acid change.

DNA↗
PubMed2001

Autogenous hard palate mucosa: the ideal lower eyelid spacer?

BACKGROUND/AIMS: Raising a displaced lower eyelid frequently involves recession of the lower eyelid retractors with interposition of a "spacer," and several materials for this purpose have been described. This study reviewed the results of autogenous palatal mucosa in the treatment of lower eyelid displacement, including assessment of any donor site morbidity. METHODS: A retrospective case note review of consecutive patients treated at Moorfields Eye Hospital between 1993 and 1998. All patients underwent insertion of hard palate mucosa between the inferior border of the tarsus and the recessed conjunctiva and lower eyelid retractors. Parameters studied included the underlying diagnosis, measurements of lower lid displacement or retraction, related previous surgery, the experience of the operating surgeon, intraoperative and postoperative complications, surgical outcome, and length of follow up. The main outcome measure was the position of the lower eyelid relative to the globe in primary position of gaze. RESULTS: 102 lower eyelids of 68 patients were included and a satisfactory lid position was achieved in 87/102 (85%), with inadequate lengthening or significant recurrence of displacement occurring in 15 cases. Donor site haemorrhage requiring treatment in the early postoperative period occurred in seven patients (10%). CONCLUSION: Autogenous hard palate mucosa is an effective eyelid spacer and provides good long term support for the lower eyelid. Donor site complications are the main disadvantage, but may be minimised by attention to meticulous surgical technique and appropriate postoperative management.

Adult↗
PubMed2000

Report of a family with dominantly inherited upper lid entropion.

AIM: To report the occurrence of late onset, bilateral, idiopathic upper lid entropion, occurring in three members of the same family, with a known family history. METHODS: Five family members were examined, and a history taken, at Moorfields Eye Hospital. Three patients were treated surgically, and one also had a tarsoconjunctival biopsy. RESULTS: In all cases, no aetiology was found. The family history suggests an autosomal dominant inheritance pattern. All patients were treated with anterior lamellar repositioning, and had optimal results. CONCLUSION: The family reported seems to be affected by a familial form of primary acquired upper lid entropion, that shows an autosomal dominant inheritance pattern.

Adolescent↗
PubMed1998

Levator palpebrae superioris fibre size in normals and patients with congenital ptosis.

A study of the histochemical staining of levator palpebrae superioris (LPS) was undertaken to measure the muscle fibre size in normal individuals and in patients with congenital dystrophic ptosis in order to see whether there is an alteration in muscle fibre size in congenital ptosis. Eight LPS specimens were obtained: 4 from normal patients (3 from normal levator divided in a bilateral brow suspension procedure and 1 from an exenteration specimen) and 4 from levator resection procedures for treatment of unilateral congenital ptosis. Cryostat sections from these specimens were stained histochemically to reveal muscle fibre types. The orthogonal diameters were measuring using a computer-generated program and the two groups compared using the Mann-Whitney mu-test. No statistically significant difference in muscle fibre diameter was found between normals and patients with congenital ptosis. There was also no change in the distribution or range of muscle fibre diameter in patients with congenital ptosis. Our findings do not support the classification of congenital ptosis as a dystrophy.

Aged↗
PubMed1998

Correction of lower eyelid retraction in thyroid eye disease: a randomised controlled trial of retractor tenotomy with adjuvant antimetabolite versus scleral graft.

BACKGROUND/AIMS: Lower eyelid retraction in thyroid eye disease contributes to ocular discomfort and an unsightly appearance, especially if asymmetrical. The use of donor scleral grafts is effective in lengthening the lower eyelids but carries a risk of virus transmission. Other techniques, including those which do not use grafts, need to be compared with scleral grafts. Recurrent retraction is a recognised complication of thyroid eyelid surgery; therefore, the authors investigated the use of antimetabolites to reduce postoperative fibrosis. METHODS: In this prospective randomised controlled trial of 25 patients (35 eyelids), the use of donor sclera in 20 lower eyelids (13 patients) was compared with partial tenotomy of the anterior part of the lower eyelid retractors (ALER) with adjuvant peroperative antimetabolite in 15 lower eyelids (12 patients). A 5 minute peroperative application of either 5-fluorouracil (25 mg/ml) in nine lower eyelids (eight patients) or mitomycin C (0.2 mg/ml) in six lower eyelids (four patients) was used to focally inhibit fibroblasts. Follow up ranged from 3 to 18 months (mean 7.8). RESULTS: One month after surgery the results of both groups were similar. However, at 3 months after surgery the results of scleral grafting were better than tenotomy with antimetabolites: 3/12 patients (25%) treated with tenotomy and adjuvant antimetabolite required subsequent surgery using grafts for correction of recurrent retraction. There were no significant complications associated with the use of antimetabolites in the eyelid in the doses used in this study. CONCLUSIONS: This randomised prospective trial shows that donor scleral grafts were more effective in the long term than partial tenotomy with adjuvant antimetabolite in the correction of lower eyelid retraction associated with thyroid eye disease. The use of peroperative antimetabolites in the lower eyelid was safe.

Adult↗
PubMed1998

Sebaceous carcinoma of the eyelid: a clinicopathological study.

BACKGROUND: Sebaceous carcinoma of the eyelid is rare. The diagnosis might be difficult because of its ability to masquerade as other periocular lesions. Prognosis is still regarded as being poor compared with most other malignant eyelid tumours with a mortality second only to malignant melanoma. The present study retrospectively analyses clinical and histopathological findings and outcome in a series of patients with sebaceous carcinoma of the eyelid in Britain. METHODS: 43 patients with histologically confirmed sebaceous carcinoma treated at Moorfields Eye Hospital between 1976 and 1992 were subjected to retrospective analysis. Clinical data of all patients were reviewed from the charts; all surviving patients except four cases lost for follow up were re-examined. Histological specimens were reviewed in 41 cases. RESULTS: 23 females and 20 males, mean age 63 years (range 37-79), were treated. Primary therapy was surgery in 37 and radiotherapy in six cases. After a median follow up of 40 months (range 1-148) 30 patients were alive without recurrences, four patients had died from the tumour, and one was alive with local recurrence and distant metastases. Four patients had died of non-tumour related causes. Histologically, unfavourable outcome was correlated with poor tumour differentiation and extensive invasion. CONCLUSION: Early diagnosis and consequent surgical therapy of sebaceous carcinoma of the eyelid leads to a better outcome and higher survival rates than generally assumed. Even local recurrences can be treated successfully. However, sebaceous carcinoma remains a threatening disease, which leads to death in 9% and to mutilating exenteration in 23% of our patients.

Adenocarcinoma, Sebaceous↗
PubMed1997

Cosmetic conformers.

The loss of an eye is an emotionally traumatic event. A prosthetic eye is usually not fitted until the socket has healed (about 6 weeks after surgery). This period, during which a clear conformer is fitted, can be particularly traumatic, especially for the newly anophthalmic patient. The authors have designed interim acrylic prosthetic conformers to help patients overcome some of these problems while preserving the necessary characteristics of ideal postoperative conformers.

Adult↗
PubMed1996

Levator transposition procedure: a review of 35 cases.

BACKGROUND: Levator transposition is used as a unilateral procedure for patients with both ptosis and aberrant movements of the eyelid. Muscular neurotisation occurs in the transposed levator muscle and thus some levator function is restored. METHOD: We reviewed 35 patients who had undergone a levator transposition procedure. RESULTS: Twenty-eight patients had jaw-winking ptosis, three had cyclic oculomotor palsy and four had a third nerve palsy with aberrant regeneration. The follow-up period was between 1 and 39 months (mean 12 months). Eighteen patients were followed up for at least 12 months and their results were analysed as a separate group. CONCLUSIONS: The levator function attained following transposition is related to the pre-operative voluntary function and this relationship is statistically significant (Wilcoxon test p < 0.001). Maximal levator function may not be achieved until 12 months post-operatively. The procedure is successful in abolishing aberrant eyelid movements and treating ptosis but the majority of patients require an additional levator resection to achieve a satisfactory lid height.

Adolescent↗
PubMed1995

The geographical epidemiology of ocular diseases: some principles and methods.

With the increasing availability of geographically referenced data in health research the time is ripe to review the use of particular geographical and spatial analysis techniques in ophthalmic research. Analysis of the geographical distribution of ocular diseases, particularly in Britain, has not had a high profile, but there are certain diseases, such as congenital eye malformations in children, where such analysis methods are particularly appropriate. We review the data requirements and then a variety of analytical techniques, some of which partition geographical space into areal units (such as counties or electoral wards), others of which treat space as continuous. We conclude with some comments on software that is available for such analyses.

Data Collection↗
PubMed1995

Mersilene mesh brow suspension: efficiency and complications.

The use of the Mersilene mesh sling brow suspension procedure for the correction of severe blepharoptosis in 76 lids of 54 patients is presented. After a median follow up of 20 months functional and cosmetic results and complications were evaluated. The method is considered to be an alternative for those cases not primarily suitable for autogenous fascia lata brow suspension.

Adolescent↗
PubMed1994

Congenital lower eyelid deformity with trichiasis (epiblepharon and entropion).

A series of 43 patients with congenital lower eyelid malposition and trichiasis (epiblepharon and entropion) is presented with clinical findings, family history, approach to management and results of treatment. The average age of patients was 9.3 years. A family history was present in 21%, and 30% had at least one parent of Oriental extraction. Thirty-nine patients underwent surgery for persistent symptoms due to chronic eyelash-globe contact. The surgical procedures performed were a modified Hotz procedure, Quickert sutures, and Jones-type retractor plication. Surgery was effective in at least 90% of all procedures.

Adolescent↗
PubMed1994

Adjustable sutures in eyelid surgery for ptosis and lid retraction.

New techniques are described and illustrated for ptosis and lid retraction surgery in which the sutures holding the upper eyelid position are adjustable postoperatively. In the anterior approach, the sutures pass from the levator muscle through the anterior surface of the tarsal plate at the position of the skin crease and are tied at the skin crease incision. In the posterior approach, the sutures pass from the levator muscle through the cut upper edge of the tarsal plate and are tied at the position of the desired skin crease. The techniques allow the lid height to be adjusted for over and undercorrection medially, centrally, laterally, or overall if required, thereby achieving the optimal surgical result without altering the position of the skin crease. Suture adjustment is a simple procedure and is recommended at 24 hours.

Blepharoptosis↗
PubMed1994

Distichiasis-lymphoedema syndrome: a family report.

Distichiasis-lymphoedema syndrome is described in a mother and son. The mother was found to have a double uterus in addition to distichiasis and peripheral oedema. Her son presented with the Pierre Robin sequence which is a rare but previously described feature of the condition.

Abnormalities, Multiple↗