Management:Management:

•Intravenous Dextrose infusion with rates up to 250mls/hr of 20% Dextrose

•Dietary intervention with frequent meals and corn starch

•Diazoxide – intolerant leading to hyponatraemia, oedema and nausea

•Octreotide/glucagon intravenously – in order to replace counter-regulatory hormones

•Subcutaneous Octreotide - hypoglycaemia worsened1

•Prednisolone – developed fluid retention

•Hepatic Arterial Embolisation (HAE) performed twice with initial improvement (post-procedure insulin 29 pmol/l), but relapsed after 4 weeks.

Addenbrooke’s Hospital Rosie Hospital

Prevention of retinal detachment in Stickler syndrome: the Cambridge Prophylactic Cryotherapy protocol (2848)

Gregory S Fincham,1 Laura Pasea,2 Christopher Carroll,3 Annie M McNinch,1,4 Arabella V Poulson,1 Allan J Richards,4,5 John D Scott,1 Martin P Snead.1,4

1Vitreoretinal Service, Cambridge University NHS Foundation Trust, Addenbrooke’s Hospital, 2Centre for Applied Medical Statistics, University of Cambridge, 3School of Health and Related Research, University of Sheffield, 4Department of Pathology, University of Cambridge, United Kingdom, 5Regional Molecular Genetics Laboratory, Cambridge University NHS Foundation Trust, Addenbrooke’s Hospital.

Stickler syndrome (MIM#108300)•Progressive arthro-ophthalmopathy is the leading cause of childhood and inherited retinal detachment (RD).

•Patients present with features illustrated in figures 1 to 6.

•Type 1 Stickler syndrome patients carry the greatest risk of RD following giant retinal breaks at the ora serrata.

HypothesisProphylactic cryotherapy to the ora serrata, where giant retinal breaks are predicted to occur, would reduce the rate of RD in type 1 Stickler syndrome.

MethodsPatients were divided into four groups for comparison before and after individual patient matching protocols:

•Bilateral prophylaxis – cryoprophylaxis to both eyes (n=194)

•Bilateral control – no previous cryoprophylaxis (n=229)

•Unilateral prophylaxis – unilateral cryoprophylaxis following fellow eye RD (n=104)

•Unilateral control – no unilateral cryoprophylaxis following fellow eye RD; subgroup of bilateral control (n=64)

ConclusionIn the largest global cohort of type 1 Stickler syndrome patients published to date, all analyses indicate that the Cambridge Prophylactic Cryotherapy protocol is safe and markedly reduces the rate of retinal detachment.

Midline palatal clefting

Oral giant retinal tear and detachment

Megaglobus and congenital myopia

Pathognomonic type 1 vitreous phenotype

Facial dysmorphia and hearing loss

Results•The prevalence of RD was significantly reduced in all groups receiving prophylaxis (see fig. 7)

•Sex-adjusted hazard ratios were significantly higher in all groups who did not receive prophylaxis (see fig. 8)

•Kaplan-Meier survival analysis demonstrated significant benefit to all groups receiving prophylaxis (see figs. 9 – 12).

•Cryoprophylaxis given according to the Cambridge Prophylactic Cryotherapy protocol caused no long-term side effects.

Spondyloepiphysealdysplasia

1. 6.2. 5.4.3.

Figure 9. Kaplan-Meier plot of unmatched bilateral control versus prophylaxis group

Figure 7. Prevalence of retinal detachment in control versus prophylaxis groups

Figure 11. Kaplan-Meier plot of unmatched unilateral control versus prophylaxis group

Figure 12. Kaplan-Meier plot of matched unilateral control versus prophylaxis group

Figure 10. Kaplan-Meier plot of matched bilateral control versus prophylaxis group

Figure 8. Hazard ratios: effect without prophylaxis and 95% confidence intervals (*sex-adjusted)

Correspondence: mps34@cam.ac.uk

28 year old male